ArticleCommunications biology2018
Identification of genes required for eye development by high-throughput screening of mouse knockouts.
Erratum issuedOpen access · goldAbstract read
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Article in Communications biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 papers.
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30citing papers in PubMed
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30 citing papers in PubMed, 43 citations in OpenAlex.
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- Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes.BMC genomics · 2025Article
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- Gene loss and relaxed selection ofbioRxiv : the preprint server for biology · 2023Article
- Investigating Neuron Degeneration in Huntington's Disease Using RNA-Seq Based Transcriptome Study.Genes · 2023Article
- Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.BMC biology · 2023Article
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- The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.Nucleic acids research · 2023Article
- Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes.Scientific reports · 2022Article
- Cell fate decisions, transcription factors and signaling during early retinal development.Progress in retinal and eye research · 2022Review
- Vision-related convergent gene losses revealeLife · 2022Article
- Mouse mutagenesis and phenotyping to generate models of development and disease.Current topics in developmental biology · 2022Review
- Advances in mouse genetics for the study of human disease.Human molecular genetics · 2021Review
- LAMA: automated image analysis for the developmental phenotyping of mouse embryos.Development (Cambridge, England) · 2021Article
- Recapitulating Evolutionary Divergence in a Single Cis-Regulatory Element Is Sufficient to Cause Expression Changes of the Lens Gene Tdrd7.Molecular biology and evolution · 2021Article
- Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.Frontiers in genetics · 2021Review
Corrections and comments
- Erratum issued
Authors and funding
70 authors at 18 institutions in 9 countries.
Bret A MooreWilliam R. Pritchard Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California-Davis, Davis, 95616, CA, USA.
Brian C LeonardDepartment of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California-Davis, Davis, CA, 95616, USA.
Lionel SebbagWilliam R. Pritchard Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California-Davis, Davis, 95616, CA, USA.
Sydney G EdwardsWilliam R. Pritchard Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California-Davis, Davis, 95616, CA, USA.
Ann CooperWilliam R. Pritchard Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California-Davis, Davis, 95616, CA, USA.
Denise M ImaiComparative Pathology Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA, 95616, USA.
Ewan StraitonMedical Research Council Harwell Institute (Mammalian Genetis Unit and Mary Lyon Center, Harwell, Oxfordshire, OX11 0RD, UK.ORCID http://orcid.org/0000-0001-8703-4155
Luis SantosMedical Research Council Harwell Institute (Mammalian Genetis Unit and Mary Lyon Center, Harwell, Oxfordshire, OX11 0RD, UK.
Christopher ReillyComparative Pathology Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA, 95616, USA.
Stephen M GriffeyComparative Pathology Laboratory, School of Veterinary Medicine, University of California-Davis, Davis, CA, 95616, USA.
Lynette BowerMouse Biology Program, and Department of Surgery, School of Medicine, University of California-Davis, Davis, CA, 95618, USA.
David ClaryMouse Biology Program, and Department of Surgery, School of Medicine, University of California-Davis, Davis, CA, 95618, USA.
Jeremy MasonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK.ORCID http://orcid.org/0000-0002-2796-5123
Michel J RouxInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, 1 rue Laurent Fries, 67404, Illkirch, France.ORCID http://orcid.org/0000-0002-5812-5215
Hamid MezianeInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, 1 rue Laurent Fries, 67404, Illkirch, France.
Yann HeraultInstitut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, 1 rue Laurent Fries, 67404, Illkirch, France.ORCID http://orcid.org/0000-0001-7049-6900
International Mouse Phenotyping Consortium
Colin McKerlieThe Centre for Phenogenomics, Toronto, ON, M5T 3H7, Canada.ORCID http://orcid.org/0000-0002-2232-0967
Ann M FlennikenThe Centre for Phenogenomics, Toronto, ON, M5T 3H7, Canada.
Lauryl M J NutterThe Centre for Phenogenomics, Toronto, ON, M5T 3H7, Canada.
Zorana BerberovicThe Centre for Phenogenomics, Toronto, ON, M5T 3H7, Canada.
Celeste OwenThe Centre for Phenogenomics, Toronto, ON, M5T 3H7, Canada.
Susan NewbiggingThe Centre for Phenogenomics, Toronto, ON, M5T 3H7, Canada.
Hibret AdissuThe Centre for Phenogenomics, Toronto, ON, M5T 3H7, Canada.
Mohammed EskandarianThe Centre for Phenogenomics, Toronto, ON, M5T 3H7, Canada.
Chih-Wei HsuDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.
Sowmya KalagaDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.
Uchechukwu UdensiDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.
Chinwe AsomughaDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.
Ritu BohatDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Juan J GallegosDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
John R SeavittDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Jason D HeaneyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Arthur L BeaudetDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Mary E DickinsonDepartment of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, 77030, USA.
Monica J JusticeThe Centre for Phenogenomics, Toronto, ON, M5T 3H7, Canada.
Vivek PhilipThe Jackson Laboratory, Bar Harbor, ME, 04609, USA.
Vivek KumarThe Jackson Laboratory, Bar Harbor, ME, 04609, USA.ORCID http://orcid.org/0000-0001-6643-7465
Karen L SvensonThe Jackson Laboratory, Bar Harbor, ME, 04609, USA.
Robert E BraunThe Jackson Laboratory, Bar Harbor, ME, 04609, USA.
Sara WellsMedical Research Council Harwell Institute (Mammalian Genetis Unit and Mary Lyon Center, Harwell, Oxfordshire, OX11 0RD, UK.
Heather CaterMedical Research Council Harwell Institute (Mammalian Genetis Unit and Mary Lyon Center, Harwell, Oxfordshire, OX11 0RD, UK.
Michelle StewartMedical Research Council Harwell Institute (Mammalian Genetis Unit and Mary Lyon Center, Harwell, Oxfordshire, OX11 0RD, UK.
Sharon Clementson-MobbsMedical Research Council Harwell Institute (Mammalian Genetis Unit and Mary Lyon Center, Harwell, Oxfordshire, OX11 0RD, UK.
Russell JoynsonMedical Research Council Harwell Institute (Mammalian Genetis Unit and Mary Lyon Center, Harwell, Oxfordshire, OX11 0RD, UK.
Xiang GaoSKL of Pharmaceutical Biotechnology and Model Animal Research Center, Collaborative Innovation Center for Genetics and Development, Nanjing Biomedical Research Institute, Nanjing University, Nanjing, 210061, China.
Tomohiro SuzukiRIKEN BioResource Center, Tsukuba, Ibaraki, 305-0074, Japan.
Shigeharu WakanaRIKEN BioResource Center, Tsukuba, Ibaraki, 305-0074, Japan.ORCID http://orcid.org/0000-0002-7037-8354
Damian SmedleyClinical Pharmacology, Charterhouse Square, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.
J K SeongKorea Mouse Phenotyping Consortium (KMPC) and BK21 Program for Veterinary Science, Research Institute for Veterinary Science, College of Veterinary Medicine, Seoul National University, 599 Gwanangno, Gwanak-gu, Seoul, 08826, South Korea.
Glauco Tocchini-ValentiniMonterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology, Adriano Buzzati-Traverso Campus, Via Ramarini, I-00015, Monterotondo Scalo, Italy.
Mark MooreInternational Mouse Phenotyping Consortium, San Anselmo, CA, 94960, USA.
Colin FletcherNational Institutes of Health, Bethesda, MD, 20205, USA.
Natasha KarpThe Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Ramiro Ramirez-SolisThe Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Jacqueline K WhiteThe Jackson Laboratory, Bar Harbor, ME, 04609, USA.
Martin Hrabe de AngelisGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.ORCID http://orcid.org/0000-0002-7898-2353
Wolfgang WurstGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.
Sara M ThomasyDepartment of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California-Davis, Davis, CA, 95616, USA.
Paul FlicekEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK.ORCID http://orcid.org/0000-0002-3897-7955
Helen ParkinsonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK.
Steve D M BrownMedical Research Council Harwell Institute (Mammalian Genetis Unit and Mary Lyon Center, Harwell, Oxfordshire, OX11 0RD, UK.
Terrence F MeehanEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1 SD, UK.
Patsy M NishinaThe Jackson Laboratory, Bar Harbor, ME, 04609, USA.
Stephen A MurrayThe Jackson Laboratory, Bar Harbor, ME, 04609, USA.
Mark P KrebsThe Jackson Laboratory, Bar Harbor, ME, 04609, USA.
Ann-Marie MallonMedical Research Council Harwell Institute (Mammalian Genetis Unit and Mary Lyon Center, Harwell, Oxfordshire, OX11 0RD, UK.
K C Kent LloydMouse Biology Program, and Department of Surgery, School of Medicine, University of California-Davis, Davis, CA, 95618, USA.ORCID http://orcid.org/0000-0002-5318-4144
Christopher J MurphyDepartment of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California-Davis, Davis, CA, 95616, USA. cjmurphy@ucdavis.edu.
Ala MoshiriDepartment of Ophthalmology & Vision Science, School of Medicine, U.C. Davis, Sacramento, CA, 95817, USA. amoshiri@ucdavis.edu.
Baylor College of Medicine · USToronto Centre for Phenogenomics · CANational Research Council · ITRIKEN BioResource Research Center · JPMary Lyon Centre at MRC Harwell · GBUniversity of California, Davis · USJackson Laboratory · USMount Sinai Hospital · CAEuropean Bioinformatics Institute · GBVeterinary Medical Teaching Hospital · USWellcome Sanger Institute · GBCentre National de la Recherche Scientifique · FRHelmholtz Zentrum München · DEHospital for Sick Children · CAModel Animal Research Center · CNNational Institutes of Health · USQueen Mary University of London · GBSeoul National University · KR
Funding
Shared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI Anna Karolina Palucka · 1985 to 2026
$61.9MThe 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
$20.4MVISION RESEARCH CORE GRANTP30EY012576 · NEI · UNIVERSITY OF CALIFORNIA DAVIS · PI MARIE E BURNS · 1999 to 2026
$18.9MKOMP 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
$17.9MConsortium 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 Jackson Laboratory KOMP2 Phenotyping CenterU54HG006332 · NHGRI · JACKSON LABORATORY · PI BRAUN, ROBERT E, SVENSON, KAREN L · 2011 to 2015
$12.8MSequencing Mutant Mice With Altered Cocaine ResponsesU01DA041668 · NIDA · JACKSON LABORATORY · PI KUMAR, VIVEK · 2016 to 2020
$2.8MMedical Research Council MC_U142684171Medical Research Council MC_U142684172Medical Research Council MC_UP_1502/3NCI NIH HHS P30 CA034196NEI NIH HHS K08 EY021142NEI NIH HHS K08 EY027463NEI NIH HHS P30 EY012576NEI NIH HHS R01 EY027860NHGRI NIH HHS U54 HG006332NHGRI NIH HHS U54 HG006348NHGRI NIH HHS U54 HG006364NHGRI NIH HHS UM1 HG006370NIDA NIH HHS U01 DA041668NIH HHS U42 OD011175NIH HHS U42 OD011185NIH HHS U42 OD012210NIH HHS UM1 OD023221NIH HHS UM1 OD023222Wellcome Trust
Abstract
Despite advances in next generation sequencing technologies, determining the genetic basis of ocular disease remains a major challenge due to the limited access and prohibitive cost of human forward genetics. Thus, less than 4,000 genes currently have available phenotype information for any organ system. Here we report the ophthalmic findings from the International Mouse Phenotyping Consortium, a large-scale functional genetic screen with the goal of generating and phenotyping a null mutant for every mouse gene. Of 4364 genes evaluated, 347 were identified to influence ocular phenotypes, 75% of which are entirely novel in ocular pathology. This discovery greatly increases the current number of genes known to contribute to ophthalmic disease, and it is likely that many of the genes will subsequently prove to be important in human ocular development and disease.
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