R3QW4S last accessed: 2022-11-04

ikmc
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:07.698496

The International Mouse Phenotyping Consortium
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

Other names: IKMC, IMPC, Intgernational Mouse Phenotyping Consortium, The International Knockout Mouse Consortium, ikmc, The International Mouse Phenotyping Consortium

The International Mouse Phenotyping Consortium (IMPC) is an international effort by 21 research institutions to identify the function of every protein-coding gene in the mouse genome. To achieve this, the IMPC is systematically switching off or ‘knocking out’ each of the roughly 20,000 genes that make up the mouse genome. Subsequently, the knock out mice undergo standardised physiological tests (phenotyping tests) across a range of biological systems in order to infer gene function, before the data is made freely available to the research community on our website.

Webpage:

https://www.mousephenotype.org

Licence:

Name: Creative Commons Attribution v4.0
URL: https://www.mousephenotype.org/help/faqs/how-do-i-cite-the-impc-website/

Publications: (6)

Publications
More detailed information about this field from each metasource.

High-throughput discovery of novel developmental phenotypes
PMID: 27626380
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

PhenoDigm: analyzing curated annotations to associate animal models with human diseases
PMID: 23660285
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium
PMID: 20929875
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:07.698496

New models for human disease from the International Mouse Phenotyping Consortium
PMID: 31127358
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

BioMart as an integration solution for the International Knockout Mouse Consortium
PMID: 21930503
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:07.698496

Incremental data integration for tracking genotype-disease associations
PMID: 31986132
metasource: BiŌkeanós-Medsourcing
version: 0.0.1:2022-11-04T13:34:25.975929

High-throughput discovery of novel developmental phenotypes PubMed citations: 471.

471 articles citing: High-throughput discovery of novel developmental phenotypes

Cytokine Receptor-Like Factor 3 (CRLF3) Contributes to Early Zebrafish Hematopoiesis. PMID:35795682
FBXO38 Ubiquitin Ligase Controls Sertoli Cell Maturation. PMID:35769260
Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank. PMID:35761239
Impact of Zinc Transport Mechanisms on Embryonic and Brain Development. PMID:35745255
Unique SMYD5 Structure Revealed by AlphaFold Correlates with Its Functional Divergence. PMID:35740908
Structure of human NADK2 reveals atypical assembly and regulation of NAD kinases from animal mitochondria. PMID:35733246
Biallelic loss of EMC10 leads to mild to severe intellectual disability. PMID:35684946
SLC38A10 Knockout Mice Display a Decreased Body Weight and an Increased Risk-Taking Behavior in the Open Field Test. PMID:35677577
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults. PMID:35661827
Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes. PMID:35659227
Genetically Modified Mouse Models of Congenital Diaphragmatic Hernia: Opportunities and Limitations for Studying Altered Lung Development. PMID:35633948
MusMorph, a database of standardized mouse morphology data for morphometric meta-analyses. PMID:35614082
The structural basis of Cdc7-Dbf4 kinase dependent targeting and phosphorylation of the MCM2-7 double hexamer. PMID:35614055
We get by with a little help from our friends: shared adaptive variation provides a bridge to novel ecological specialists during adaptive radiation. PMID:35611537
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome. PMID:35603789
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss. PMID:35580588
Roles of the actin cytoskeleton in ciliogenesis. PMID:35575063
Identifying genetic determinants of inflammatory pain in mice using a large-scale gene-targeted screen. PMID:35552317
GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans. PMID:35551368
Pathogenic tau recruits wild-type tau into brain inclusions and induces gut degeneration in transgenic SPAM mice. PMID:35550593
Impact of RSUME Actions on Biomolecular Modifications in Physio-Pathological Processes. PMID:35528020
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder. PMID:35460391
The E3 Ligase RNF157 Inhibits Lens Epithelial Cell Apoptosis by Negatively Regulating p53 in Age-Related Cataracts. PMID:35435923
Deletion of Calsyntenin-3, an atypical cadherin, suppresses inhibitory synapses but increases excitatory parallel-fiber synapses in cerebellum. PMID:35420982
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. PMID:35397207
Functional redundancy among Polycomb complexes in maintaining the pluripotent state of embryonic stem cells. PMID:35364009
Pregnancy Complications and Neonatal Mortality in a Serotonin Transporter Null Mouse Model: Insight Into the Use of Selective Serotonin Reuptake Inhibitor During Pregnancy. PMID:35360732
Genome-wide CRISPR screen reveals CLPTM1L as a lipid scramblase required for efficient glycosylphosphatidylinositol biosynthesis. PMID:35344438
The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets. PMID:35338153
EFHD1 ablation inhibits cardiac mitoflash activation and protects cardiomyocytes from ischemia. PMID:35304170
FOXO1 represses sprouty 2 and sprouty 4 expression to promote arterial specification and vascular remodeling in the mouse yolk sac. PMID:35297995
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. PMID:35295849
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes. PMID:35248088
ADAP1 promotes latent HIV-1 reactivation by selectively tuning KRAS-ERK-AP-1 T cell signaling-transcriptional axis. PMID:35232997
The Wnt1-Cre2 transgene is active in the male germline. PMID:35180326
The Deubiquitinase OTUB1 Is a Key Regulator of Energy Metabolism. PMID:35163456
Genetic Influence on Frequencies of Myeloid-Derived Cell Subpopulations in Mouse. PMID:35154069
The role of mitophagy during oocyte aging in human, mouse, and Drosophila: implications for oocyte quality and mitochondrial disease. PMID:35118415
Ex vivo development of the entire mouse fetal reproductive tract by using microdissection and membrane-based organ culture techniques. PMID:35030420
Limb development genes underlie variation in human fingerprint patterns. PMID:34995520
The characteristics of early-stage research into human genes are substantially different from subsequent research. PMID:34990452
Pannexin 2 is expressed in murine skin and promotes UVB-induced apoptosis of keratinocytes. PMID:34985913
Characterization of single nucleotide polymorphisms for a forward genetics approach using genetic crosses in C57BL/6 and BALB/c substrains of mice. PMID:34980769
ATXN10 Is Required for Embryonic Heart Development and Maintenance of Epithelial Cell Phenotypes in the Adult Kidney and Pancreas. PMID:34970537
Structure, Activity, and Function of SETMAR Protein Lysine Methyltransferase. PMID:34947873
Reverse Genetic Screen for Deleterious Recessive Variants in the Local Simmental Cattle Population of Switzerland. PMID:34944310
Heterogeneity in the Epigenetic Landscape of Murine Testis-Specific Histone Variants TH2A and TH2B Sharing the Same Bi-Directional Promoter. PMID:34938732
TM2D genes regulate Notch signaling and neuronal function in Drosophila. PMID:34905536
Broad spectrum of CRISPR-induced edits in an embryonic lethal gene. PMID:34887431
The good, the bad, and the ugly: Evolutionary and pathological aspects of gene dosage alterations. PMID:34882671
Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene function. PMID:34870209
Comprehensive Transcriptomic Profiling of Murine Osteoclast Differentiation Reveals Novel Differentially Expressed Genes and LncRNAs. PMID:34868271
Trait-specific Selection Signature Detection Reveals Novel Loci of Meat Quality in Large White Pigs. PMID:34868241
ProMetIS, deep phenotyping of mouse models by combined proteomics and metabolomics analysis. PMID:34862403
Variant interpretation using population databases: Lessons from gnomAD. PMID:34859531
Personalized phosphoproteomics identifies functional signaling. PMID:34857927
Genomics and transcriptomics landscapes associated to changes in insulin sensitivity in response to endurance exercise training. PMID:34857871
Histone variant H2A.Z regulates zygotic genome activation. PMID:34853314
An efficient i-GONAD method for creating and maintaining lethal mutant mice using an inversion balancer identified from the C3H/HeJJcl strain. PMID:34849815
Glutamine deprivation triggers NAGK-dependent hexosamine salvage. PMID:34844667
From genotype to phenotype: genetics of mammalian long non-coding RNAs in vivo. PMID:34837040
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives. PMID:34830115
Artefacts in Volume Data Generated with High Resolution Episcopic Microscopy (HREM). PMID:34829939
The Multifaceted Regulation of Mitochondrial Dynamics During Mitosis. PMID:34805174
Discriminative feature of cells characterizes cell populations of interest by a small subset of genes. PMID:34797848
Intermittent fasting and caloric restriction interact with genetics to shape physiological health in mice. PMID:34791228
Hearing loss genes reveal patterns of adaptive evolution at the coding and non-coding levels in mammals. PMID:34784928
A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background. PMID:34774562
Identification of Signaling Pathways for Early Embryonic Lethality and Developmental Retardation in Sephs1-/- Mice. PMID:34769078
PRC1 Stabilizes Cardiac Contraction by Regulating Cardiac Sarcomere Assembly and Cardiac Conduction System Construction. PMID:34768802
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. PMID:34750991
The Nestin neural enhancer is essential for normal levels of endogenous Nestin in neuroprogenitors but is not required for embryo development. PMID:34739481
Investigations into SCAMP5, a candidate lupus risk gene expressed in plasmacytoid dendritic cells. PMID:34728555
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5. PMID:34711829
Progress towards completing the mutant mouse null resource. PMID:34698892
Cellular Complexity of Hemochorial Placenta: Stem Cell Populations, Insights from scRNA-seq, and SARS-CoV-2 Susceptibility. PMID:34697582
Liprins in oncogenic signaling and cancer cell adhesion. PMID:34654889
The dihydropyrimidine dehydrogenase gene contributes to heritable differences in sleep in mice. PMID:34653361
Coupled protein synthesis and ribosome-guided piRNA processing on mRNAs. PMID:34645830
Lethal variants in humans: lessons learned from a large molecular autopsy cohort. PMID:34645488
The Distinct Properties of the Consecutive Disordered Regions Inside or Outside Protein Domains and Their Functional Significance. PMID:34639018
Transcriptomic analysis of the seminal vesicle response to the reproductive toxicant acrylamide. PMID:34625024
Loss of Resf1 reduces the efficiency of embryonic stem cell self-renewal and germline entry. PMID:34607919
XRCC3 loss leads to midgestational embryonic lethality in mice. PMID:34601382
Novel gene discovery for hearing loss and other routes to increased diagnostic rates. PMID:34599370
The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis. PMID:34564857
Highly efficient manipulation of nervous system gene expression with NEPTUNE. PMID:34557863
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis. PMID:34535384
Mouse resources at the RIKEN BioResource Research Center and the National BioResource Project core facility in Japan. PMID:34532769
Pleiotropy data resource as a primer for investigating co-morbidities/multi-morbidities and their role in disease. PMID:34524473
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation. PMID:34519870
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans. PMID:34494102
Asian Mouse Mutagenesis Resource Association (AMMRA): mouse genetics and laboratory animal resources in the Asia Pacific. PMID:34482437
Annotated expression and activity data for murine recombinase alleles and transgenes: the CrePortal resource. PMID:34482425
A Meta-Analysis of Bioelectric Data in Cancer, Embryogenesis, and Regeneration. PMID:34476377
The venous system of E14.5 mouse embryos-reference data and examples for diagnosing malformations in embryos with gene deletions. PMID:34435363
The macrophage-derived protein PTMA induces filamentation of the human fungal pathogen Candida albicans. PMID:34433036
SNARE Regulatory Proteins in Synaptic Vesicle Fusion and Recycling. PMID:34421538
Off-the-shelf proximity biotinylation for interaction proteomics. PMID:34408139
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. PMID:34379057
Widespread cryptic variation in genetic architecture between the sexes. PMID:34367661
High Resolution Episcopic Microscopy for Qualitative and Quantitative Data in Phenotyping Altered Embryos and Adult Mice Using the New "Histo3D" System. PMID:34356832
Yippee like 4 (Ypel4) is essential for normal mouse red blood cell membrane integrity. PMID:34354145
Ketogenesis impact on liver metabolism revealed by proteomics of lysine β-hydroxybutyrylation. PMID:34348140
Anisotropic expansion of hepatocyte lumina enforced by apical bulkheads. PMID:34328499
Dynamic changes in RNA-protein interactions and RNA secondary structure in mammalian erythropoiesis. PMID:34315813
Ancestry analysis indicates two different sets of essential genes in eukaryotic model species. PMID:34279742
The effects of aging on molecular modulators of human embryo implantation. PMID:34278260
Metabolomic and transcriptomic analysis reveals endogenous substrates and metabolic adaptation in rats lacking Abcg2 and Abcb1a transporters. PMID:34255797
ZFP451-mediated SUMOylation of SATB2 drives embryonic stem cell differentiation. PMID:34244292
Regional specific differentiation of integumentary organs: SATB2 is involved in α- and β-keratin gene cluster switching in the chicken. PMID:34240503
Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia. PMID:34197731
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. PMID:34172899
E3 ubiquitin ligase Wwp1 regulates ciliary dynamics of the Hedgehog receptor Smoothened. PMID:34161574
Loss of Wiz Function Affects Methylation Pattern in Palate Development and Leads to Cleft Palate. PMID:34150743
The extensive and functionally uncharacterized mitochondrial phosphoproteome. PMID:34144036
Structure and function of STAC proteins: Calcium channel modulators and critical components of muscle excitation-contraction coupling. PMID:34129875
Systems genetics in diversity outbred mice inform BMD GWAS and identify determinants of bone strength. PMID:34099702
Proteomic Dissection of the Impact of Environmental Exposures on Mouse Seminal Vesicle Function. PMID:34089863
Risk of sudden cardiac death in EXOSC5-related disease. PMID:34089229
Advances in mouse genetics for the study of human disease. PMID:34089057
A Novel Assay for Phosphoserine Phosphatase Exploiting Serine Acetyltransferase as the Coupling Enzyme. PMID:34073563
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. PMID:34050187
Identification of an Altered Matrix Signature in Kidney Aging and Disease. PMID:34049963
CDK9: A Comprehensive Review of Its Biology, and Its Role as a Potential Target for Anti-Cancer Agents. PMID:34041038
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases. PMID:34040193
Drainage-structuring of ancestral variation and a common functional pathway shape limited genomic convergence in natural high- and low-predation guppies. PMID:34029313
The Roles of Peroxiredoxin 6 in Brain Diseases. PMID:34013449
Standardized and reproducible measurement of decision-making in mice. PMID:34011433
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8. PMID:34010605
Inborn disorders of the malate aspartate shuttle. PMID:33990986
Tissue context determines the penetrance of regulatory DNA variation. PMID:33990600
Rab34 GTPase mediates ciliary membrane formation in the intracellular ciliogenesis pathway. PMID:33989527
Regulation of Inflammatory Response by Transmembrane Adaptor Protein LST1. PMID:33986741
Generation of mitochondrial reactive oxygen species is controlled by ATPase inhibitory factor 1 and regulates cognition. PMID:33983919
EXOC1 plays an integral role in spermatogonia pseudopod elongation and spermatocyte stable syncytium formation in mice. PMID:33973520
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. PMID:33964184
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. PMID:33962631
Updates to HCOP: the HGNC comparison of orthology predictions tool. PMID:33959747
Epigenetic analysis of Paget's disease of bone identifies differentially methylated loci that predict disease status. PMID:33929316
Using CRISPR to understand and manipulate gene regulation. PMID:33913466
Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice. PMID:33905568
RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia. PMID:33897349
Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. PMID:33879837
Differential effects by sex with Kmt5b loss. PMID:33871180
Functional and Pathological Roles of AHCY. PMID:33869213
The N-terminal Leu-Pro-Gln sequence of Rab34 is required for ciliogenesis in hTERT-RPE1 cells. PMID:33860735
Mitochondrial Fission Protein 1: Emerging Roles in Organellar Form and Function in Health and Disease. PMID:33841340
Disruption of the MSL complex inhibits tumour maintenance by exacerbating chromosomal instability. PMID:33837287
Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families. PMID:33837273
A resource of targeted mutant mouse lines for 5,061 genes. PMID:33833456
Genetics of Azoospermia. PMID:33806855
The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss. PMID:33799353
In silico candidate variant and gene identification using inbred mouse strains. PMID:33763305
A Deep Learning Approach for Segmentation, Classification, and Visualization of 3-D High-Frequency Ultrasound Images of Mouse Embryos. PMID:33755564
RNA Interference Screening Reveals Requirement for Platelet-Derived Growth Factor Receptor Beta in Japanese Encephalitis Virus Infection. PMID:33753340
Genetic analysis of Pycr1 and Pycr2 in mice. PMID:33734376
Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution. PMID:33731941
Mutant non-coding RNA resource in mouse embryonic stem cells. PMID:33729986
The roles of Polycomb repressive complexes in mammalian development and cancer. PMID:33723438
A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits. PMID:33713180
Targeting alveolar-specific succinate dehydrogenase A attenuates pulmonary inflammation during acute lung injury. PMID:33687752
A versatile platform for locus-scale genome rewriting and verification. PMID:33649239
rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis. PMID:33633225
Transcriptome-wide association study identifies multiple genes associated with childhood body mass index. PMID:33627773
Hypoglossal Nerve Abnormalities as Biomarkers for Central Nervous System Defects in Mouse Lines Producing Embryonically Lethal Offspring. PMID:33584208
Subtype-dependent regulation of Gβγ signalling. PMID:33582184
Behavioural Characterisation of Macrod1 and Macrod2 Knockout Mice. PMID:33578760
LAMA: automated image analysis for the developmental phenotyping of mouse embryos. PMID:33574040
Quick validation of genetic quality for conditional alleles in mice. PMID:33540482
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. PMID:33531666
Characterizing modifier genes of cardiac fibrosis phenotype in hypertrophic cardiomyopathy. PMID:33529666
A shift from glycolytic and fatty acid derivatives toward one-carbon metabolites in the developing lung during transitions of the early postnatal period. PMID:33502935
Mutations in the splicing regulator Prp31 lead to retinal degeneration in Drosophila. PMID:33495354
SGIP1 is involved in regulation of emotionality, mood, and nociception and modulates in vivo signalling of cannabinoid CB1 receptors. PMID:33491188
Efficient multiplexed genome engineering with a polycistronic tRNA and CRISPR guide-RNA reveals an important role of detonator in reproduction of Drosophila melanogaster. PMID:33444382
Mtu1 defects are correlated with reduced osteogenic differentiation. PMID:33431792
Differential effects of RASA3 mutations on hematopoiesis are profoundly influenced by genetic background and molecular variant. PMID:33370780
Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density. PMID:33370286
MicroRNA-574 regulates FAM210A expression and influences pathological cardiac remodeling. PMID:33369227
S-adenosyl-l-homocysteine hydrolase links methionine metabolism to the circadian clock and chromatin remodeling. PMID:33328229
Leveraging phenotypic variability to identify genetic interactions in human phenotypes. PMID:33326753
The H+-ATPase (V-ATPase): from proton pump to signaling complex in health and disease. PMID:33326313
Hearing impairment due to Mir183/96/182 mutations suggests both loss and gain of function effects. PMID:33318051
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier. PMID:33315133
Cross-Priming Dendritic Cells Exacerbate Immunopathology After Ischemic Tissue Damage in the Heart. PMID:33297741
An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder. PMID:33261099
Robustness and lethality in multilayer biological molecular networks. PMID:33247151
ZC3H4-a novel Cys-Cys-Cys-His-type zinc finger protein-is essential for early embryogenesis in mice†. PMID:33246328
A multicomponent screen for feeding behaviour and nutritional status in Drosophila to interrogate mammalian appetite-related genes. PMID:33242659
Structural and mechanistic basis of the EMC-dependent biogenesis of distinct transmembrane clients. PMID:33236988
Sexual dimorphism in trait variability and its eco-evolutionary and statistical implications. PMID:33198888
Dedicated transcriptomics combined with power analysis lead to functional understanding of genes with weak phenotypic changes in knockout lines. PMID:33180766
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. PMID:33172956
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. PMID:33164986
TCRD and Pharos 2021: mining the human proteome for disease biology. PMID:33156327
Loss of PHF6 leads to aberrant development of human neuron-like cells. PMID:33149206
A holistic view of mouse enhancer architectures reveals analogous pleiotropic effects and correlation with human disease. PMID:33138777
System-level analyses of keystone genes required for mammalian tooth development. PMID:33128445
Developmental Gene Expression Differences between Humans and Mammalian Models. PMID:33113372
High-throughput genotyping of high-homology mutant mouse strains by next-generation sequencing. PMID:33096238
DEG 15, an update of the Database of Essential Genes that includes built-in analysis tools. PMID:33095861
Unique features and emerging in vitro models of human placental development. PMID:33071632
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. PMID:33060286
Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits. PMID:33045005
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis. PMID:33025139
Loss of POLR1D results in embryonic lethality prior to blastocyst formation in mice. PMID:33022126
Embryonic Mouse Cardiodynamic OCT Imaging. PMID:33020375
A most formidable arsenal: genetic technologies for building a better mouse. PMID:33004485
Expression analysis of mammalian mitochondrial ribosomal protein genes. PMID:32987154
A Membrane-Tethered Ubiquitination Pathway Regulates Hedgehog Signaling and Heart Development. PMID:32966817
Protein-Coding Genes in Euarchontoglires with Pseudogene Homologs in Humans. PMID:32927891
Baseline and innate immune response characterization of a Zfp30 knockout mouse strain. PMID:32860515
Inducible deletion of CDK4 and CDK6 - deciphering CDK4/6 inhibitor effects in the hematopoietic system. PMID:32855282
The NK cell granule protein NKG7 regulates cytotoxic granule exocytosis and inflammation. PMID:32839608
How Much Does Ne Vary Among Species? PMID:32839240
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. PMID:32822602
Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets. PMID:32814578
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. PMID:32792680
Interpretation of psychiatric genome-wide association studies with multispecies heterogeneous functional genomic data integration. PMID:32791514
Functional Divergence of Mammalian TFAP2a and TFAP2b Transcription Factors for Bidirectional Sleep Control. PMID:32769099
A genome-wide scan for candidate lethal variants in Thoroughbred horses. PMID:32753654
Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men. PMID:32741963
Transcriptional activity and strain-specific history of mouse pseudogenes. PMID:32728065
Defective heart chamber growth and myofibrillogenesis after knockout of adprhl1 gene function by targeted disruption of the ancestral catalytic active site. PMID:32726316
Global translation during early development depends on the essential transcription factor PRDM10. PMID:32681107
A comprehensive analysis of Rab GTPases reveals a role for Rab34 in serum starvation-induced primary ciliogenesis. PMID:32669361
Genes adapt to outsmart gene-targeting strategies in mutant mouse strains by skipping exons to reinitiate transcription and translation. PMID:32646486
Protein phosphatase 1 regulatory subunit 35 is required for ciliogenesis, notochord morphogenesis, and cell-cycle progression during murine development. PMID:32628936
A fully-automated method discovers loss of mouse-lethal and human-monogenic disease genes in 58 mammals. PMID:32614390
Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development. PMID:32579612
Vitamin-D-Binding Protein Contributes to the Maintenance of α Cell Function and Glucagon Secretion. PMID:32553153
A Survey of Essential Genome Stability Genes Reveals That Replication Stress Mitigation Is Critical for Peri-Implantation Embryogenesis. PMID:32548123
Rab family of small GTPases: an updated view on their regulation and functions. PMID:32542850
Estimation of non-null SNP effect size distributions enables the detection of enriched genes underlying complex traits. PMID:32542026
Reverse genetics reveals single gene of every candidate on Hybrid sterility, X Chromosome QTL 2 (Hstx2) are dispensable for spermatogenesis. PMID:32493902
Whole-exome sequencing and genome-wide association studies identify novel sarcopenia risk genes in Han Chinese. PMID:32478482
A 'Goldmine' for digging cancer-specific targets: the genes essential for embryo development but non-essential for adult life. PMID:32470104
Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation. PMID:32376682
Calcium-Free and Cytochalasin B Treatment Inhibits Blastomere Fusion in 2-Cell Stage Embryos for the Generation of Floxed Mice via Sequential Electroporation. PMID:32354036
Unique transcriptional signatures of sleep loss across independently evolved cavefish populations. PMID:32351033
The F-box protein FBXL16 up-regulates the stability of C-MYC oncoprotein by antagonizing the activity of the F-box protein FBW7. PMID:32345600
Deubiquitinase MYSM1 in the Hematopoietic System and beyond: A Current Review. PMID:32344625
Label-free optical imaging in developmental biology [Invited]. PMID:32341864
Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse. PMID:32341096
Knockout mouse models reveal the contributions of G protein subunits to complement C5a receptor-mediated chemotaxis. PMID:32332099
Squaring the EMC - how promoting membrane protein biogenesis impacts cellular functions and organismal homeostasis. PMID:32332093
Role of UDP-Sugar Receptor P2Y14 in Murine Osteoblasts. PMID:32326617
Pleiotropic loci underlying bone mineral density and bone size identified by a bivariate genome-wide association analysis. PMID:32314116
The lasting after-effects of an ancient polyploidy on the genomes of teleosts. PMID:32298330
A high-content RNAi screen reveals multiple roles for long noncoding RNAs in cell division. PMID:32296040
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. PMID:32294086
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. PMID:32290105
Loss of RBBP4 results in defective inner cell mass, severe apoptosis, hyperacetylated histones and preimplantation lethality in mice†. PMID:32285100
iMM1865: A New Reconstruction of Mouse Genome-Scale Metabolic Model. PMID:32277147
Cep55 promotes cytokinesis of neural progenitors but is dispensable for most mammalian cell divisions. PMID:32269212
Two novel pleiotropic loci associated with osteoporosis and abdominal obesity. PMID:32239398
Deletion of Gpr27 in vivo reduces insulin mRNA but does not result in diabetes. PMID:32221326
Evolutionary Selection and Constraint on Human Knee Chondrocyte Regulation Impacts Osteoarthritis Risk. PMID:32220312
Toward Development of the Male Pill: A Decade of Potential Non-hormonal Contraceptive Targets. PMID:32161754
An atlas of evidence-based phenotypic associations across the mouse phenome. PMID:32127602
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice. PMID:32101538
Knockout Mouse Models for Peroxiredoxins. PMID:32098329
Chromatin interaction analyses elucidate the roles of PRC2-bound silencers in mouse development. PMID:32094912
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. PMID:32084271
A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes. PMID:32060626
A large-scale resource for tissue-specific CRISPR mutagenesis in Drosophila. PMID:32053108
Regulation of Nucleotide Metabolism and Germline Proliferation in Response to Nucleotide Imbalance and Genotoxic Stresses by EndoU Nuclease. PMID:32049015
Rabs in Signaling and Embryonic Development. PMID:32033485
Human and mouse essentiality screens as a resource for disease gene discovery. PMID:32005800
Functional and population genetic features of copy number variations in two dairy cattle populations. PMID:31992181
Incremental data integration for tracking genotype-disease associations. PMID:31986132
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. PMID:31985809
Murine Surf4 is essential for early embryonic development. PMID:31978056
Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions. PMID:31965828
Glial Cells-The Strategic Targets in Amyotrophic Lateral Sclerosis Treatment. PMID:31963681
Cytochrome P450 family proteins as potential biomarkers for ovarian granulosa cell damage in mice with premature ovarian failure. PMID:31949819
Forward genetic approach for behavioral neuroscience using animal models. PMID:31932526
High-throughput discovery of genetic determinants of circadian misalignment. PMID:31929527
Characteristics of induced mutations in offspring derived from irradiated mouse spermatogonia and mature oocytes. PMID:31913321
Genome and population sequencing of a chromosome-level genome assembly of the Chinese tapertail anchovy (Coilia nasus) provides novel insights into migratory adaptation. PMID:31895412
Characterization of the c10orf76-PI4KB complex and its necessity for Golgi PI4P levels and enterovirus replication. PMID:31829496
Observations From a Mouse Model of Forebrain Voa1 Knockout: Focus on Hippocampal Structure and Function. PMID:31824264
The Emerging Role of Gβ Subunits in Human Genetic Diseases. PMID:31817184
Selective breeding modifies mef2ca mutant incomplete penetrance by tuning the opposing Notch pathway. PMID:31790396
Identifying gene function and module connections by the integration of multispecies expression compendia. PMID:31754022
Male mice lacking ADAMTS-16 are fertile but exhibit testes of reduced weight. PMID:31748609
Overexpression of Mitochondrial Calcium Uniporter Causes Neuronal Death. PMID:31737163
Nubp2 is required for cranial neural crest survival in the mouse. PMID:31733190
Loss of the ribosomal RNA methyltransferase NSUN5 impairs global protein synthesis and normal growth. PMID:31722427
Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viability. PMID:31704914
A natural mouse model reveals genetic determinants of systemic capillary leak syndrome (Clarkson disease). PMID:31701027
High-mobility group nucleosomal binding domain 2 protects against microcephaly by maintaining global chromatin accessibility during corticogenesis. PMID:31699896
Genetic backgrounds have unique seizure response profiles and behavioral outcomes following convulsant administration. PMID:31698263
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. PMID:31695177
Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases. PMID:31678418
The Mitochondrial Acyl-carrier Protein Interaction Network Highlights Important Roles for LYRM Family Members in Complex I and Mitoribosome Assembly. PMID:31666358
HOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases. PMID:31653226
Genes essential for embryonic stem cells are associated with neurodevelopmental disorders. PMID:31649057
An interactive and intuitive visualisation method for X-ray computed tomography data of biological samples in 3D Portable Document Format. PMID:31624273
Spatiotemporal gene expression patterns reveal molecular relatedness between retinal laminae. PMID:31609468
Soft windowing application to improve analysis of high-throughput phenotyping data. PMID:31591642
Family-wide Annotation of Enzymatic Pathways by Parallel In Vivo Metabolomics. PMID:31587987
Tolerance to Selenoprotein Loss Differs between Human and Mouse. PMID:31560400
Mitochondrial amidoxime-reducing component 2 (MARC2) has a significant role in N-reductive activity and energy metabolism. PMID:31554661
Mechanisms of early placental development in mouse and humans. PMID:31534202
Enterovirus pathogenesis requires the host methyltransferase SETD3. PMID:31527793
New insights on human essential genes based on integrated analysis and the construction of the HEGIAP web-based platform. PMID:31504171
A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves. PMID:31486122
Efficient genome-wide first-generation phenotypic screening system in mice using the piggyBac transposon. PMID:31451639
Reproducibility of CRISPR-Cas9 methods for generation of conditional mouse alleles: a multi-center evaluation. PMID:31446895
The dark genome and pleiotropy: challenges for precision medicine. PMID:31444567
Syndromic immune disorder caused by a viable hypomorphic allele of spliceosome component Snrnp40. PMID:31427773
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials. PMID:31403230
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. PMID:31371754
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. PMID:31371714
The Col4a2em1(IMPC)Wtsi mouse line: lessons from the Deciphering the Mechanisms of Developmental Disorders program. PMID:31331924
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. PMID:31327508
Pptc7 is an essential phosphatase for promoting mammalian mitochondrial metabolism and biogenesis. PMID:31324765
Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation and implicates genetic modifiers in disease severity. PMID:31323190
Spatiotemporal Gene Coexpression and Regulation in Mouse Cardiomyocytes of Early Cardiac Morphogenesis. PMID:31322043
Small-protein Enrichment Assay Enables the Rapid, Unbiased Analysis of Over 100 Low Abundance Factors from Human Plasma. PMID:31308252
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. PMID:31303264
The elongation factor Elof1 is required for mammalian gastrulation. PMID:31276560
Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes. PMID:31273585
A genetic system for biasing the sex ratio in mice. PMID:31267640
Generating viable mice with heritable embryonically lethal mutations using the CRISPR-Cas9 system in two-cell embryos. PMID:31253768
High-resolution contrast-enhanced microCT reveals the true three-dimensional morphology of the murine placenta. PMID:31249139
Gene expression across mammalian organ development. PMID:31243369
Common and distinct transcriptional signatures of mammalian embryonic lethality. PMID:31243271
Conditional Deletion of Eaf1 Induces Murine Prostatic Intraepithelial Neoplasia in Mice. PMID:31229879
Aquatic Adaptation and Depleted Diversity: A Deep Dive into the Genomes of the Sea Otter and Giant Otter. PMID:31212313
Standardised imaging pipeline for phenotyping mouse laterality defects and associated heart malformations, at multiple scales and multiple stages. PMID:31208960
High Resolution Imaging of Mouse Embryos and Neonates with X-Ray Micro-Computed Tomography. PMID:31195428
Generation of bicistronic reporter knockin mice for visualizing germ layers. PMID:31189761
Axonal autophagosome maturation defect through failure of ATG9A sorting underpins pathology in AP-4 deficiency syndrome. PMID:31142229
Mouse Models and Online Resources for Functional Analysis of Osteoporosis Genome-Wide Association Studies. PMID:31133984
New models for human disease from the International Mouse Phenotyping Consortium. PMID:31127358
Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa. PMID:31126147
Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. PMID:31120506
A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia. PMID:31107948
Predicting human disease mutations and identifying drug targets from mouse gene knockout phenotyping campaigns. PMID:31064765
Computational 3D histological phenotyping of whole zebrafish by X-ray histotomography. PMID:31063133
Anatomical basis and physiological role of cerebrospinal fluid transport through the murine cribriform plate. PMID:31063132
The Genome of C57BL/6J "Eve", the Mother of the Laboratory Mouse Genome Reference Strain. PMID:30996023
Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality. PMID:30993004
Identifying Selection Signatures for Backfat Thickness in Yorkshire Pigs Highlights New Regions Affecting Fat Metabolism. PMID:30925743
Genome-wide genotyping uncovers genetic diversity, phylogeny, signatures of selection, and population structure of Chinese Jiangquhai pigs in a global perspective1. PMID:30882885
RIT1 oncoproteins escape LZTR1-mediated proteolysis. PMID:30872527
Loss of SET reveals both the p53-dependent and the p53-independent functions in vivo. PMID:30858352
Transcriptional Analysis Shows a Robust Host Response to Toxoplasma gondii during Early and Late Chronic Infection in Both Male and Female Mice. PMID:30858341
The Essentiality Status of Mouse Duplicate Gene Pairs Correlates with Developmental Co-Expression Patterns. PMID:30824779
From gene to treatment: supporting rare disease translational research through model systems. PMID:30819728
Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response. PMID:30805583
The single-cell transcriptional landscape of mammalian organogenesis. PMID:30787437
Compensatory growth renders Tcf7l1a dispensable for eye formation despite its requirement in eye field specification. PMID:30777146
The strong propensity of Cadherin-23 for aggregation inhibits cell migration. PMID:30747484
Concerted expression of a cell cycle regulator and a metabolic enzyme from a bicistronic transcript in plants. PMID:30737513
Crystal structures of human lysosomal EPDR1 reveal homology with the superfamily of bacterial lipoprotein transporters. PMID:30729188
Comprehensive functional annotation of susceptibility SNPs prioritized 10 genes for schizophrenia. PMID:30705251
Molecular and in vivo Functions of the CDK8 and CDK19 Kinase Modules. PMID:30693281
Genetic variation in PLEKHG1 is associated with white matter hyperintensities (n = 11,226). PMID:30659137
Large-scale discovery of mouse transgenic integration sites reveals frequent structural variation and insertional mutagenesis. PMID:30659012
Single cell functional genomics reveals the importance of mitochondria in cell-to-cell phenotypic variation. PMID:30638445
SETD3 is an actin histidine methyltransferase that prevents primary dystocia. PMID:30626964
Generating mouse models for biomedical research: technological advances. PMID:30626588
NOTUM inhibition increases endocortical bone formation and bone strength. PMID:30622831
Lack of Major Ophthalmic Findings in Patients with Primary Familial Brain Calcification Linked to SLC20A2 and PDGFB. PMID:30607898
Identification of genes required for eye development by high-throughput screening of mouse knockouts. PMID:30588515
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. PMID:30578417
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways. PMID:30566859
Identifying mouse developmental essential genes using machine learning. PMID:30563825
Enhancers in the Peril lincRNA locus regulate distant but not local genes. PMID:30537984
Recognition of the Diglycine C-End Degron by CRL2KLHDC2 Ubiquitin Ligase. PMID:30526872
Genomic identification and functional analysis of essential genes in Caenorhabditis elegans. PMID:30514206
TFforge utilizes large-scale binding site divergence to identify transcriptional regulators involved in phenotypic differences. PMID:30496469
Quantitative morphometric analysis of adult teleost fish by X-ray computed tomography. PMID:30410001
Terminal nucleotidyl transferases (TENTs) in mammalian RNA metabolism. PMID:30397099
Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in primary cicatricial alopecia. PMID:30372477
Negative elongation factor is essential for endometrial function. PMID:30332301
Rab34 small GTPase is required for Hedgehog signaling and an early step of ciliary vesicle formation in mouse. PMID:30301781
Intracrine Regulation of Estrogen and Other Sex Steroid Levels in Endometrium and Non-gynecological Tissues; Pathology, Physiology, and Drug Discovery. PMID:30283331
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci. PMID:30275530
Mice doubly deficient in Six4 and Six5 show ventral body wall defects reproducing human omphalocele. PMID:30237319
From Molecules to Mechanisms: Functional Proteomics and Its Application to Renal Tubule Physiology. PMID:30182799
Bioinformatic and biological avenues for understanding alcohol use disorder. PMID:30144960
The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation. PMID:30100824
PRDM Histone Methyltransferase mRNA Levels Increase in Response to Curative Hormone Treatment for Cryptorchidism-Dependent Male Infertility. PMID:30071651
Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome. PMID:30067223
Effect of genetic drift on determinants of protein evolution. PMID:30021860
In utero gene expression in the Slc39a8(neo/neo) knockdown mouse. PMID:30013175
Understanding Tendons: Lessons from Transgenic Mouse Models. PMID:29978741
Experimental evidence for rapid genomic adaptation to a new niche in an adaptive radiation. PMID:29942074
Application of long single-stranded DNA donors in genome editing: generation and validation of mouse mutants. PMID:29925374
Epigenetic maintenance of topological domains in the highly rearranged gibbon genome. PMID:29914971
Genes Whose Gain or Loss-Of-Function Increases Skeletal Muscle Mass in Mice: A Systematic Literature Review. PMID:29910734
High-resolution μCT of a mouse embryo using a compact laser-driven X-ray betatron source. PMID:29871946
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. PMID:29861106
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. PMID:29851191
Clinical and genetic analysis of a rare syndrome associated with neoteny. PMID:29758565
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling. PMID:29735715
CDG Therapies: From Bench to Bedside. PMID:29702557
High-throughput mouse phenomics for characterizing mammalian gene function. PMID:29626206
A genomics approach reveals insights into the importance of gene losses for mammalian adaptations. PMID:29572503
Embryonic lethality is not sufficient to explain hourglass-like conservation of vertebrate embryos. PMID:29568479
Wash exhibits context-dependent phenotypes and, along with the WASH regulatory complex, regulates Drosophila oogenesis. PMID:29549166
Placentation defects are highly prevalent in embryonic lethal mouse mutants. PMID:29539633
Joint study of two genome-wide association meta-analyses identified 20p12.1 and 20q13.33 for bone mineral density. PMID:29499414
Unexplored therapeutic opportunities in the human genome. PMID:29472638
The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse. PMID:29439133
MacroD1 Is a Promiscuous ADP-Ribosyl Hydrolase Localized to Mitochondria. PMID:29410655
Training mouse pathologists: 16th annual workshop on the pathology of mouse models of human disease. PMID:29384517
Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database. PMID:29382827
Streamlined ex vivo and in vivo genome editing in mouse embryos using recombinant adeno-associated viruses. PMID:29379011
Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its paralog GLTSCR1-like form SWI/SNF chromatin remodeling subcomplexes. PMID:29374058
Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models. PMID:29369447
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings. PMID:29357359
Role of METTL20 in regulating β-oxidation and heat production in mice under fasting or ketogenic conditions. PMID:29352221
Imbalances in the Hsp90 Chaperone Machinery: Implications for Tauopathies. PMID:29311797
Inverted formin 2 regulates intracellular trafficking, placentation, and pregnancy outcome. PMID:29309034
Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. PMID:29304378
CRISPR Screens Uncover Genes that Regulate Target Cell Sensitivity to the Morphogen Sonic Hedgehog. PMID:29290584
A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. PMID:29274432
Noncoding copy-number variations are associated with congenital limb malformation. PMID:29236091
Myosin-X knockout is semi-lethal and demonstrates that myosin-X functions in neural tube closure, pigmentation, hyaloid vasculature regression, and filopodia formation. PMID:29229982
STRIP1, a core component of STRIPAK complexes, is essential for normal mesoderm migration in the mouse embryo. PMID:29203676
Properties of human genes guided by their enrichment in rare and common variants. PMID:29197136
Adiposity QTL Adip20 decomposes into at least four loci when dissected using congenic strains. PMID:29194435
The European Bioinformatics Institute in 2017: data coordination and integration. PMID:29186510
Three-dimensional microCT imaging of murine embryonic development from immediate post-implantation to organogenesis: application for phenotyping analysis of early embryonic lethality in mutant animals. PMID:29170794
Metrics to estimate differential co-expression networks. PMID:29151892
Corrigendum: High-throughput discovery of novel developmental phenotypes. PMID:29144450
Human gene essentiality. PMID:29082913
Autistic Siblings with Novel Mutations in Two Different Genes: Insight for Genetic Workups of Autistic Siblings and Connection to Mitochondrial Dysfunction. PMID:29075622
A High-Resolution Genome-Wide CRISPR/Cas9 Viability Screen Reveals Structural Features and Contextual Diversity of the Human Cell-Essential Proteome. PMID:29038160
Emerging and evolving concepts in gene essentiality. PMID:29033457
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. PMID:29026089
Genome-wide mapping of large deletions and their population-genetic properties in dairy cattle. PMID:28985340
An efficient method for generation of bi-allelic null mutant mouse embryonic stem cells and its application for investigating epigenetic modifiers. PMID:28981838
Do Gametes Woo? Evidence for Their Nonrandom Union at Fertilization. PMID:28978771
Gene-disease associations identify a connectome with shared molecular pathways in human cholangiopathies. PMID:28865156
Mouse Genome Informatics (MGI) Resource: Genetic, Genomic, and Biological Knowledgebase for the Laboratory Mouse. PMID:28838066
Ggnbp2-Null Mutation in Mice Leads to Male Infertility due to a Defect at the Spermiogenesis Stage. PMID:28823874
Morphology, topology and dimensions of the heart and arteries of genetically normal and mutant mouse embryos at stages S21-S23. PMID:28776665
Dual RNA Processing Roles of Pat1b via Cytoplasmic Lsm1-7 and Nuclear Lsm2-8 Complexes. PMID:28768202
Phenotyping first-generation genome editing mutants: a new standard? PMID:28756587
Molecular autopsy in maternal-fetal medicine. PMID:28749478
Structure, Activity Regulation, and Role of the Mitochondrial Calcium Uniporter in Health and Disease. PMID:28740830
A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. PMID:28739660
Large-Scale Analysis of Drug Side Effects via Complex Regulatory Modules Composed of microRNAs, Transcription Factors and Gene Sets. PMID:28729650
High-resolution Episcopic Microscopy (HREM) - Simple and Robust Protocols for Processing and Visualizing Organic Materials. PMID:28715372
Genetic compensation: A phenomenon in search of mechanisms. PMID:28704371
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PMID:28700664
Modeling human disease in rodents by CRISPR/Cas9 genome editing. PMID:28677007
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. PMID:28650483
Next-generation mammalian genetics toward organism-level systems biology. PMID:28649442
A novel imaging method for correlating 2D light microscopic data and 3D volume data based on block-face imaging. PMID:28623366
Properties of genes essential for mouse development. PMID:28562614
Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. PMID:28441456
Protein-arginine deiminase 2 suppresses proliferation of colon cancer cells through protein citrullination. PMID:28403548
Fetal de novo mutations and preterm birth. PMID:28388617
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. PMID:28343629
Glutathione peroxidase 4 inhibits Wnt/β-catenin signaling and regulates dorsal organizer formation in zebrafish embryos. PMID:28302747
Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice. PMID:28132686
Of mice and CRISPR: The post-CRISPR future of the mouse as a model system for the human condition. PMID:28119373
How mice are indispensable for understanding obesity and diabetes genetics. PMID:28107248
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. PMID:27996060
Increased burden of deleterious variants in essential genes in autism spectrum disorder. PMID:27956632
A bioimage informatics platform for high-throughput embryo phenotyping. PMID:27742664
Calcium at the Center of Cell Signaling: Interplay between Endoplasmic Reticulum, Mitochondria, and Lysosomes. PMID:27692849
Three-dimensional microCT imaging of mouse development from early post-implantation to early postnatal stages. PMID:27671873
PhenoDigm: analyzing curated annotations to associate animal models with human diseases PubMed citations: 78.

78 articles citing: PhenoDigm: analyzing curated annotations to associate animal models with human diseases

Evolutionary rewiring of regulatory networks contributes to phenotypic differences between human and mouse orthologous genes. PMID:35137181
Evaluating semantic similarity methods for comparison of text-derived phenotype profiles. PMID:35123470
DeepSVP: Integration of genotype and phenotype for structural variant prioritization using deep learning. PMID:34951628
Effects of Negation and Uncertainty Stratification on Text-Derived Patient Profile Similarity. PMID:34939069
Dimensional reduction of phenotypes from 53 000 mouse models reveals a diverse landscape of gene function. PMID:34870209
Mouse Genome Informatics (MGI): latest news from MGD and GXD. PMID:34698891
Pleiotropy data resource as a primer for investigating co-morbidities/multi-morbidities and their role in disease. PMID:34524473
Diffusion enables integration of heterogeneous data and user-driven learning in a desktop knowledge-base. PMID:34379637
Establishment and application of information resource of mutant mice in RIKEN BioResource Research Center. PMID:33455583
Predicting candidate genes from phenotypes, functions and anatomical site of expression. PMID:33051643
Semantic similarity and machine learning with ontologies. PMID:33049044
Interpretation of psychiatric genome-wide association studies with multispecies heterogeneous functional genomic data integration. PMID:32791514
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. PMID:32340307
TarGo: network based target gene selection system for human disease related mouse models. PMID:32257911
An atlas of evidence-based phenotypic associations across the mouse phenome. PMID:32127602
Human and mouse essentiality screens as a resource for disease gene discovery. PMID:32005800
Incremental data integration for tracking genotype-disease associations. PMID:31986132
Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery. PMID:31735951
HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology. PMID:31255713
New models for human disease from the International Mouse Phenotyping Consortium. PMID:31127358
Ontology based text mining of gene-phenotype associations: application to candidate gene prediction. PMID:30809638
A large-scale dataset of in vivo pharmacology assay results. PMID:30351302
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants. PMID:30279426
matchbox: An open-source tool for patient matching via the Matchmaker Exchange. PMID:30240502
The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation. PMID:30100824
HPO2GO: prediction of human phenotype ontology term associations for proteins using cross ontology annotation co-occurrences. PMID:30083448
[From symptom to syndrome using modern software support]. PMID:29995249
Mouse phenotyping sheds light on rare disease. PMID:28898215
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. PMID:28650483
The anatomy of phenotype ontologies: principles, properties and applications. PMID:28387809
PCAN: phenotype consensus analysis to support disease-gene association. PMID:27923364
Open Targets: a platform for therapeutic target identification and validation. PMID:27899665
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species. PMID:27899636
The Human Phenotype Ontology in 2017. PMID:27899602
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. PMID:27788187
Navigating the Phenotype Frontier: The Monarch Initiative. PMID:27516611
An Integrated Data Driven Approach to Drug Repositioning Using Gene-Disease Associations. PMID:27196054
Reporting phenotypes in mouse models when considering body size as a potential confounder. PMID:26865945
Next-generation diagnostics and disease-gene discovery with the Exomiser. PMID:26562621
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. PMID:26562225
PhenoMiner: from text to a database of phenotypes associated with OMIM diseases. PMID:26507285
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. PMID:26437029
The digital revolution in phenotyping. PMID:26420780
Applications of comparative evolution to human disease genetics. PMID:26338499
A mouse informatics platform for phenotypic and translational discovery. PMID:26314589
OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization. PMID:26272982
Use of model organism and disease databases to support matchmaking for human disease gene discovery. PMID:26269093
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. PMID:26251998
Phenotype-driven strategies for exome prioritization of human Mendelian disease genes. PMID:26229552
Human phenotyping on a population scale. PMID:26226359
Allele, phenotype and disease data at Mouse Genome Informatics: improving access and analysis. PMID:26162703
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. PMID:26119816
ZFIN, The zebrafish model organism database: Updates and new directions. PMID:26097180
Disease insights through cross-species phenotype comparisons. PMID:26092691
Applying the ARRIVE Guidelines to an In Vivo Database. PMID:25992600
Linking gene expression to phenotypes via pathway information. PMID:25901272
GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles. PMID:25861967
An ontology approach to comparative phenomics in plants. PMID:25774204
Similarity-based search of model organism, disease and drug effect phenotypes. PMID:25763178
Automatic concept recognition using the human phenotype ontology reference and test suite corpora. PMID:25725061
HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology. PMID:25664462
Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome. PMID:25659760
Finding our way through phenotypes. PMID:25562316
INFRAFRONTIER--providing mutant mouse resources as research tools for the international scientific community. PMID:25414328
The role of protein interaction networks in systems biomedicine. PMID:25379140
The influence of disease categories on gene candidate predictions from model organism phenotypes. PMID:25093073
Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon. PMID:25009735
Using association rule mining to determine promising secondary phenotyping hypotheses. PMID:24932005
MORPHIN: a web tool for human disease research by projecting model organism biology onto a human integrated gene network. PMID:24861622
Phenotype ontologies and cross-species analysis for translational research. PMID:24699242
Linking tissues to phenotypes using gene expression profiles. PMID:24634472
Thematic series on biomedical ontologies in JBMS: challenges and new directions. PMID:24602198
The zebrafish anatomy and stage ontologies: representing the anatomy and development of Danio rerio. PMID:24568621
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. PMID:24358150
WormQTLHD--a web database for linking human disease to natural variation data in C. elegans. PMID:24217915
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. PMID:24217912
Improved exome prioritization of disease genes through cross-species phenotype comparison. PMID:24162188
Learning to recognize phenotype candidates in the auto-immune literature using SVM re-ranking. PMID:24155869
The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium PubMed citations: 55.

55 articles citing: The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium

Mutant non-coding RNA resource in mouse embryonic stem cells. PMID:33729986
UCHL1 regulates oxidative activity in skeletal muscle. PMID:33137160
UCHL1 regulates muscle fibers and mTORC1 activity in skeletal muscle. PMID:31356902
An efficient method for generation of bi-allelic null mutant mouse embryonic stem cells and its application for investigating epigenetic modifiers. PMID:28981838
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. PMID:28650483
CRISPR/Cas9 mediated genome editing in ES cells and its application for chimeric analysis in mice. PMID:27530713
CRISPR/Cas9-Mediated Insertion of loxP Sites in the Mouse Dock7 Gene Provides an Effective Alternative to Use of Targeted Embryonic Stem Cells. PMID:27175020
The genetics of bone mass and susceptibility to bone diseases. PMID:27052486
Efficient Generation of Mice with Consistent Transgene Expression by FEEST. PMID:26573149
Beyond knockouts: the International Knockout Mouse Consortium delivers modular and evolving tools for investigating mammalian genes. PMID:26340938
A mouse informatics platform for phenotypic and translational discovery. PMID:26314589
Collaborative Cross and Diversity Outbred data resources in the Mouse Phenome Database. PMID:26286858
PhenStat: A Tool Kit for Standardized Analysis of High Throughput Phenotypic Data. PMID:26147094
Gene Perturbation Atlas (GPA): a single-gene perturbation repository for characterizing functional mechanisms of coding and non-coding genes. PMID:26039571
Accessing Data Resources in the Mouse Phenome Database for Genetic Analysis of Murine Life Span and Health Span. PMID:25533306
Impact of temporal variation on design and analysis of mouse knockout phenotyping studies. PMID:25343444
In amnio MRI of mouse embryos. PMID:25330230
Comparison of sequence variants in transcriptomic control regions across 17 mouse genomes. PMID:24647628
Legal agreements and the governance of research commons: lessons from materials sharing in mouse genomics. PMID:24552652
Mouse phenome database. PMID:24243846
DEG 10, an update of the database of essential genes that includes both protein-coding genes and noncoding genomic elements. PMID:24243843
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. PMID:24194600
The mouse Gene Expression Database (GXD): 2014 update. PMID:24163257
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource. PMID:23912999
A systematic genome-wide analysis of zebrafish protein-coding gene function. PMID:23594742
The Enzyme Portal: a case study in applying user-centred design methods in bioinformatics. PMID:23514033
Lower urinary tract development and disease. PMID:23408557
Robust and sensitive analysis of mouse knockout phenotypes. PMID:23300663
LoxP-FRT Trap (LOFT): a simple and flexible system for conventional and reversible gene targeting. PMID:23198860
Clone DB: an integrated NCBI resource for clone-associated data. PMID:23193260
The EBI enzyme portal. PMID:23175605
Genome-wide association studies in mice. PMID:23044826
From mice to humans. PMID:22996130
Accessing data from the International Mouse Phenotyping Consortium: state of the art and future plans. PMID:22991088
The mammalian gene function resource: the International Knockout Mouse Consortium. PMID:22968824
The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data. PMID:22961259
Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project. PMID:22961258
MASTR: a technique for mosaic mutant analysis with spatial and temporal control of recombination using conditional floxed alleles in mice. PMID:22884371
BioGPS and GXD: mouse gene expression data-the benefits and challenges of data integration. PMID:22847375
CreZOO--the European virtual repository of Cre and other targeted conditional driver strains. PMID:22730454
Cardiac-specific inducible and conditional gene targeting in mice. PMID:22628574
New routes for transgenesis of the mouse. PMID:22569888
Mouse genetic and phenotypic resources for human genetics. PMID:22422677
MouseFinder: Candidate disease genes from mouse phenotype data. PMID:22331800
The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse. PMID:22075990
The Reactome BioMart. PMID:22012987
BioMart as an integration solution for the International Knockout Mouse Consortium. PMID:21930503
Mouse genomic variation and its effect on phenotypes and gene regulation. PMID:21921910
A resource of vectors and ES cells for targeted deletion of microRNAs in mice. PMID:21822254
The mouse genetics toolkit: revealing function and mechanism. PMID:21722353
A conditional knockout resource for the genome-wide study of mouse gene function. PMID:21677750
Mouse resources for craniofacial research. PMID:21309071
Bi-allelic gene targeting in mouse embryonic stem cells. PMID:21288739
Mouse mutants and phenotypes: accessing information for the study of mammalian gene function. PMID:21185380
The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics. PMID:21051359
New models for human disease from the International Mouse Phenotyping Consortium PubMed citations: 20.

20 articles citing: New models for human disease from the International Mouse Phenotyping Consortium

Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases. PMID:35256540
Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage. PMID:34831381
The Yin and the Yang of Transformative Research During the COVID-19 Pandemic-A Perspective. PMID:34249804
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes. PMID:34220947
Advances in mouse genetics for the study of human disease. PMID:34089057
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. PMID:34050187
Essential genes from genome-wide screenings as a resource for neuropsychiatric disorders gene discovery. PMID:34035214
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. PMID:33962631
Using CRISPR to understand and manipulate gene regulation. PMID:33913466
Understanding and Treating Niemann-Pick Type C Disease: Models Matter. PMID:33256121
The Value of Mouse Models of Rare Diseases: A Spanish Experience. PMID:33173540
Developmental Gene Expression Differences between Humans and Mammalian Models. PMID:33113372
High-throughput genotyping of high-homology mutant mouse strains by next-generation sequencing. PMID:33096238
Mouse Genetic Reference Populations: Cellular Platforms for Integrative Systems Genetics. PMID:33010949
Spontaneous and Induced Animal Models for Cancer Research. PMID:32878340
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing Impairment. PMID:32585897
Principles of Genetic Engineering. PMID:32164255
High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders. PMID:32117046
Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes. PMID:32111086
The Deep Genome Project. PMID:32008577
BioMart as an integration solution for the International Knockout Mouse Consortium PubMed citations: 6.

6 articles citing: BioMart as an integration solution for the International Knockout Mouse Consortium

The BioMart community portal: an innovative alternative to large, centralized data repositories. PMID:25897122
Functional genomics screening utilizing mutant mouse embryonic stem cells identifies novel radiation-response genes. PMID:25853515
The Mammalian Phenotype Ontology as a unifying standard for experimental and high-throughput phenotyping data. PMID:22961259
BioGPS and GXD: mouse gene expression data-the benefits and challenges of data integration. PMID:22847375
The Reactome BioMart. PMID:22012987
BioMart Central Portal: an open database network for the biological community. PMID:21930507

Incremental data integration for tracking genotype-disease associations PubMed citations: 4.

Tags:

Tags
More detailed information about this field from each metasource.

diseases
metasource: re3data.org
version: re3data.org: International Mouse Phenotyping Consortium; editing status 2022-06-13; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3QW4S last accessed: 2022-11-04

embryonic
metasource: re3data.org
version: re3data.org: International Mouse Phenotyping Consortium; editing status 2022-06-13; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3QW4S last accessed: 2022-11-04

genotype
metasource: re3data.org
version: re3data.org: International Mouse Phenotyping Consortium; editing status 2022-06-13; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3QW4S last accessed: 2022-11-04

major human disease
metasource: re3data.org
version: re3data.org: International Mouse Phenotyping Consortium; editing status 2022-06-13; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3QW4S last accessed: 2022-11-04

mouse
metasource: re3data.org
version: re3data.org: International Mouse Phenotyping Consortium; editing status 2022-06-13; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3QW4S last accessed: 2022-11-04

mutations
metasource: re3data.org
version: re3data.org: International Mouse Phenotyping Consortium; editing status 2022-06-13; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3QW4S last accessed: 2022-11-04

phenotyping
metasource: re3data.org
version: re3data.org: International Mouse Phenotyping Consortium; editing status 2022-06-13; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3QW4S last accessed: 2022-11-04

stem cell
metasource: re3data.org
version: re3data.org: International Mouse Phenotyping Consortium; editing status 2022-06-13; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3QW4S last accessed: 2022-11-04

genotype and phenotype
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:07.698496

pathology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:07.698496

zoology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:07.698496

regenerative medicine
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:07.698496

diseases embryonic genotype major human disease mouse mutations phenotyping stem cell genotype and phenotype pathology zoology regenerative medicine

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Minimal Information for Mouse Phenotyping Procedures

Knockout Mouse Project

Deciphering the Mechanisms of Developmental Disorders

Mouse Genome Database - a Mouse Genome Informatics (MGI) Resource

International Gene Trap Consortium Database

EuroPhenome

Mouse Phenome Database

International Mouse Strain Resource

Mutant Mouse Regional Resource Centers Catalog

European Mouse Mutant Archive

Minimum Information about Plant Phenotyping Experiment

Mouse Adult Gross Anatomy Ontology

Gene Ontology

European Mouse Mutant Cell Repository

NCBI Clone DB

e-Mouse Atlas

GENCODE

Plant Phenotype Experiment Ontology

International Human Epigenome Consortium Data Portal

Mouse Tumor Biology Database