ArticleNature genetics2017
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.
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Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 155 papers.
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155citing papers in PubMed
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Who cites it
155 citing papers in PubMed.
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- The future objectives of the International Mouse Phenotyping Consortium (IMPC): functional evaluation of human disease-relevant cis-regulatory elements in the mouse genome.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Deep single-cell decoding of human pancreatic islets reveals T2D β-cell gene expression defects.The EMBO journal · 2026Article
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- The Common Fund Data Ecosystem (CFDE).bioRxiv : the preprint server for biology · 2026Article
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- ANKHD1 promotes pathogenic proliferation in Autosomal Dominant Polycystic Kidney Disease via the Cyclin D1/CDK4 pathway.Journal of translational medicine · 2025Article
- Polyamine metabolism in prostate cancer.Current opinion in oncology · 2025Review
- Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita.Science advances · 2025Article
- Article
- IncreasedWellcome open research · 2025Article
- Twenty-first century mouse genetics is again at an inflection point.Lab animal · 2025Review
- Commentary: The International Mouse Phenotyping Consortium: high-throughput in vivo functional annotation of the mammalian genome.Mammalian genome : official journal of the International Mammalian Genome Society · 2024Article
- PhosX: data-driven kinase activity inference from phosphoproteomics experiments.Bioinformatics (Oxford, England) · 2024Article
95 more citing papers are in PubMed but not listed here.
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Authors and funding
64 authors.
Terrence F MeehanEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.
Nathalie ConteEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.
David B WestChildren's Hospital Oakland Research Institute, Oakland, California, USA.
Julius O JacobsenWilliam Harvey Research Institute, Queen Mary University of London, London, UK.
Jeremy MasonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.ORCID http://orcid.org/0000-0002-2796-5123
Jonathan WarrenEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.
Chao-Kung ChenEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.
Ilinca TudoseEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.
Mike RelacEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.
Peter MatthewsEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.ORCID http://orcid.org/0000-0001-5482-0328
Natasha KarpThe Wellcome Trust Sanger Institute, Hinxton, UK.
Luis SantosMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
Tanja FiegelMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
Natalie RingMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
Henrik WesterbergMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
Simon GreenawayMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
Duncan SneddonMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
Hugh MorganMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
Gemma F CodnerMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
Michelle E StewartMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
James BrownMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
Neil HornerMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
International Mouse Phenotyping Consortium
Melissa HaendelDepartment of Medical Informatics and Clinical Epidemiology and OHSU Library, Oregon Health &Science University, Portland, Oregon, USA.
Nicole WashingtonDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, California, USA.
Christopher J MungallDivision of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, California, USA.
Corey L ReynoldsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Juan GallegosDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Valerie Gailus-DurnerHelmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics, Neuherberg, Germany.
Tania SorgCELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), Illkirch-Graffenstaden, France.
Guillaume PavlovicCELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), Illkirch-Graffenstaden, France.
Lynette R BowerMouse Biology Program, University of California, Davis, Davis, California, USA.
Mark MooreIMPC, San Anselmo, California, USA.
Iva MorseCharles River Laboratories, Wilmington, Massachusetts, USA.
Xiang GaoSKL of Pharmaceutical Biotechnology and Model Animal Research Center, Collaborative Innovation Center for Genetics and Development, Nanjing Biomedical Research Institute, Nanjing University, Nanjing, China.
Glauco P Tocchini-ValentiniMonterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology, Monterotondo Scalo, Italy.
Yuichi ObataRIKEN BioResource Center, Tsukuba, Japan.
Soo Young ChoKorea Mouse Phenotyping Center, Seoul, Republic of Korea.
Je Kyung SeongKorea Mouse Phenotyping Center, Seoul, Republic of Korea.
John SeavittDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Arthur L BeaudetDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Mary E DickinsonDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Yann HeraultCELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), Illkirch-Graffenstaden, France.ORCID http://orcid.org/0000-0001-7049-6900
Wolfgang WurstHelmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics, Neuherberg, Germany.
Martin Hrabe de AngelisHelmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics, Neuherberg, Germany.ORCID http://orcid.org/0000-0002-7898-2353
K C Kent LloydMouse Biology Program, University of California, Davis, Davis, California, USA.ORCID http://orcid.org/0000-0002-5318-4144
Ann M FlennikenCentre for Phenogenomics, Toronto, Ontario, Canada.
Lauryl M J NutterCentre for Phenogenomics, Toronto, Ontario, Canada.
Susan NewbiggingCentre for Phenogenomics, Toronto, Ontario, Canada.
Colin McKerlieCentre for Phenogenomics, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-2232-0967
Monica J JusticeMouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada.
Stephen A MurrayJackson Laboratory, Bar Harbor, Maine, USA.
Karen L SvensonJackson Laboratory, Bar Harbor, Maine, USA.
Robert E BraunJackson Laboratory, Bar Harbor, Maine, USA.
Jacqueline K WhiteThe Wellcome Trust Sanger Institute, Hinxton, UK.
Allan BradleyThe Wellcome Trust Sanger Institute, Hinxton, UK.
Paul FlicekEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.ORCID http://orcid.org/0000-0002-3897-7955
Sara WellsMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
William C SkarnesThe Wellcome Trust Sanger Institute, Hinxton, UK.
David J AdamsThe Wellcome Trust Sanger Institute, Hinxton, UK.
Helen ParkinsonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton, UK.
Ann-Marie MallonMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
Steve D M BrownMedical Research Council Harwell, Mammalian Genetics Unit and Mary Lyon Centre, Harwell, UK.
Damian SmedleyWilliam Harvey Research Institute, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-5836-9850
Funding
Shared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI William Carl Skarnes · 1985 to 2026
$61.9MUM1HG006348: Cas9 Genome Integrity Supplemental ProposalUM1HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI Jason D. Heaney, Chih-Wei Logan Hsu · 2016 to 2026
$47.5MThe Jackson Laboratory Knockout Mouse Production and Phenotyping Project (JAX KOMP2)UM1OD023222 · OD · JACKSON LABORATORY · PI ROBERT E BRAUN, Stephen A Murray · 2016 to 2026
$47.2MKOMP2-Phase3 Production and Phenotyping by the DTCC Consortium TCP Transfer to UC DavisUM1OD023221 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI KC KENT LLOYD · 2016 to 2026
$45.7MUCD Mutant Mouse Regional Resource CenterU42OD012210 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI KC KENT LLOYD · 2012 to 2026
$29.2MMouse Phenotyping Informatics Infrastructure - MP12UM1HG006370 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI Pilar Cacheiro Martinez, Helen Elizabeth Parkinson · 2016 to 2026
$20.4MKOMP Phase II Mouse Production and CryopreservationU42OD011175 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LLOYD, KC KENT · 2012 to 2015
$18.9MHigh Throughput Production and Cryopreservation of Knockout MiceU42OD011185 · OD · JACKSON LABORATORY · PI MURRAY, STEPHEN A, TAFT, ROBERT A · 2012 to 2015
$17.9MCRSPR II Supplement: Consortium for the production and cryopreservation of knockout miceU42OD011174 · OD · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L. · 2012 to 2015
$17.7MConsortium for Broad Based Disease Phenotyping of Knockout MiceU54HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L., PAYLOR, RICHARD E · 2011 to 2015
$17.0MKOMP Phase II Mouse PhenotypingU54HG006364 · NHGRI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LLOYD, KC KENT · 2011 to 2015
$16.3MThe Monarch Initiative: Linking Diseases to Model Organism ResourcesR24OD011883 · OD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2012 to 2024
$16.0MMedical Research Council MC_U142684171Medical Research Council MC_U142684172Medical Research Council MC_UP_1502/3NCI NIH HHS P30 CA034196NHGRI NIH HHS U54 HG006332NHGRI NIH HHS U54 HG006348NHGRI NIH HHS U54 HG006364NHGRI NIH HHS U54 HG006370NHGRI NIH HHS UM1 HG006348NHGRI NIH HHS UM1 HG006370NIH HHS R24 OD011883NIH HHS U42 OD011174NIH HHS U42 OD011175NIH HHS U42 OD011185NIH HHS U42 OD012210NIH HHS UM1 OD023221NIH HHS UM1 OD023222Wellcome Trust
Abstract
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests. All mice will be readily available to the biomedical community. Analyzing the first 3,328 genes identified models for 360 diseases, including the first models, to our knowledge, for type C Bernard-Soulier, Bardet-Biedl-5 and Gordon Holmes syndromes. 90% of our phenotype annotations were novel, providing functional evidence for 1,092 genes and candidates in genetically uncharacterized diseases including arrhythmogenic right ventricular dysplasia 3. Finally, we describe our role in variant functional validation with The 100,000 Genomes Project and others.
Indexed as
Disease Models, AnimalGene Knockout TechniquesAnimalsFemaleGenetic Diseases, InbornGenetic Predisposition to DiseaseHumansMaleMiceMice, KnockoutPhenotype
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