ArticleNature2016
High-throughput discovery of novel developmental phenotypes.
Erratum issuedAbstract read
In one paragraph
Article in Nature, 2016. 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 821 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
821citing papers in PubMed, 2 pooled it
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
821 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.Human genomics · 2025Pooled it
- Chemical Inhibition of Sterol Biosynthesis.Biomolecules · 2024Pooled it
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- A muscle-enriched mitochondrial protein regulates postnatal heart growth through mitonuclear ubiquinone-PPAR signaling.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in mice.Human molecular genetics · 2026Article
- Svep1 orchestrates distal airway patterning and alveolar differentiation in murine lung development.eLife · 2026Article
- The p.Arg52Leu variant in GNB2 causes a gain-of-function due to an increase of IBMC cardiovascular disorders · 2026Article
- Trappc4 is required for early mammalian development.Zygote (Cambridge, England) · 2026Article
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Chemical Screening Identifies Danofloxacin as a Self-Renewal Agonist of Embryonic Stem Cells through Alleviation of HDAC1-Mediated Deacetylation of Tert and Prdm10.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Mitochondrial Fis1 tunes Rab7A activity via TBC1D15 modulating STING degradation.Cell reports · 2026Article
- Probabilistic mapping of sub-genic intolerance reveals functional and disease-critical protein regions.bioRxiv : the preprint server for biology · 2026Article
- A mitochondrial insertion directs substrate selection and engagement by the protein unfoldase ClpX.The Journal of biological chemistry · 2026Article
- Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Anti-LCN2 antibody treatment is associated with attenuated hearing loss and blood-labyrinth barrier disruption in a mouse model of chronic kidney disease.Journal of molecular histology · 2026Article
- Is Tori seeing red? A lesson for first-year biology that unveils the complexity of phenotypic variation with pedigree analysis.Journal of microbiology & biology education · 2026Article
- Restoring comparative expertise to improve translation of animal models.Disease models & mechanisms · 2026Review
- The KXD1-TSPAN14 axis controls megakaryopoiesis and platelet production via Notch signaling.Science China. Life sciences · 2026Article
- Identification of novel genes regulating the development of the palate.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- Machine Learning Reveals the Contribution of Rare Genetic Variants and Enhances Risk Prediction for Coronary Artery Disease in the Japanese Population.Circulation. Genomic and precision medicine · 2026Article
761 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
91 authors.
Mary E DickinsonDepartment of Molecular Physiology and Biophysics, Houston, Texas 77030, USA.
Ann M FlennikenThe Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
Xiao JiGenomics and Computational Biology Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Lydia TeboulMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
Michael D WongThe Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
Jacqueline K WhiteThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Terrence F MeehanEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Wolfgang J WeningerCentre for Anatomy and Cell Biology, Medical University of Vienna, Vienna A-1090, Austria.
Henrik WesterbergMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
Hibret AdissuThe Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
Candice N BakerThe Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Lynette BowerMouse Biology Program, University of California, Davis, California 95618, USA.
James M BrownMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
L Brianna CaddleThe Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Francesco ChianiMonterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology, Monterotondo Scalo I-00015, Italy.
Dave ClaryMouse Biology Program, University of California, Davis, California 95618, USA.
James CleakMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
Mark J DalyAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
James M DenegreThe Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Brendan DoeThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Mary E DolanThe Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Sarah M EdieThe Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Helmut FuchsHelmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg 85764, Germany.
Valerie Gailus-DurnerHelmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg 85764, Germany.
Antonella GalliThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Alessia GambadoroMonterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology, Monterotondo Scalo I-00015, Italy.
Juan GallegosDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Shiying GuoSKL of Pharmaceutical Biotechnology and Model Animal Research Center, Collaborative Innovation Center for Genetics and Development, Nanjing Biomedical Research Institute, Nanjing University, Nanjing 210061, China.
Neil R HornerMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
Chih-Wei HsuDepartment of Molecular Physiology and Biophysics, Houston, Texas 77030, USA.
Sara J JohnsonMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
Sowmya KalagaDepartment of Molecular Physiology and Biophysics, Houston, Texas 77030, USA.
Lance C KeithDepartment of Molecular Physiology and Biophysics, Houston, Texas 77030, USA.
Louise LanoueMouse Biology Program, University of California, Davis, California 95618, USA.
Thomas N LawsonMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
Monkol LekAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Manuel MarkInfrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS), et Institut de Génétique Biologie Moléculaire et Cellulaire (IGBMC) CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden 67404, France.
Susan MarschallHelmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg 85764, Germany.
Jeremy MasonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Melissa L McElweeDepartment of Molecular Physiology and Biophysics, Houston, Texas 77030, USA.
Susan NewbiggingThe Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
Lauryl M J NutterThe Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
Kevin A PetersonThe Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Ramiro Ramirez-SolisThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Douglas J RowlandMouse Biology Program, University of California, Davis, California 95618, USA.
Edward RyderThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Kaitlin E SamochaAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
John R SeavittDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Mohammed SelloumInfrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS), et Institut de Génétique Biologie Moléculaire et Cellulaire (IGBMC) CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden 67404, France.
Zsombor Szoke-KovacsMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
Masaru TamuraRIKEN BioResource Center, Tsukuba, Ibaraki 305-0074, Japan.
Amanda G TrainorMouse Biology Program, University of California, Davis, California 95618, USA.
Ilinca TudoseEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Shigeharu WakanaRIKEN BioResource Center, Tsukuba, Ibaraki 305-0074, Japan.
Jonathan WarrenEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Olivia WendlingInfrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS), et Institut de Génétique Biologie Moléculaire et Cellulaire (IGBMC) CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden 67404, France.
David B WestChildren's Hospital Oakland Research Institute, Oakland, California 94609, USA.
Leeyean WongDepartment of Molecular Physiology and Biophysics, Houston, Texas 77030, USA.
Atsushi YoshikiRIKEN BioResource Center, Tsukuba, Ibaraki 305-0074, Japan.
International Mouse Phenotyping Consortium
Jackson Laboratory
Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS)
Charles River Laboratories
MRC Harwell
Toronto Centre for Phenogenomics
Wellcome Trust Sanger Institute
RIKEN BioResource Center
Daniel G MacArthurAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Glauco P Tocchini-ValentiniMonterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology, Monterotondo Scalo I-00015, Italy.
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.
Paul FlicekEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Allan BradleyThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
William C SkarnesThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Monica J JusticeThe Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.
Helen E ParkinsonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK.
Mark MooreIMPC, San Anselmo, California 94960, USA.
Sara WellsMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
Robert E BraunThe Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Karen L SvensonThe Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Martin Hrabe de AngelisHelmholtz Zentrum München, German Research Center for Environmental Health, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg 85764, Germany.
Yann HeraultInfrastructure Nationale PHENOMIN, Institut Clinique de la Souris (ICS), et Institut de Génétique Biologie Moléculaire et Cellulaire (IGBMC) CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden 67404, France.
Tim MohunThe Francis Crick Institute Mill Hill Laboratory, The Ridgeway, Mill Hill, London NW1 1AT, UK.
Ann-Marie MallonMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
R Mark HenkelmanThe Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
Steve D M BrownMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire OX11 0RD, UK.
David J AdamsThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
K C Kent LloydMouse Biology Program, University of California, Davis, California 95618, USA.
Colin McKerlieThe Toronto Centre for Phenogenomics, Toronto, Ontario M5T 3H7, Canada.
Arthur L BeaudetDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Maja BućanDepartments of Genetics and Psychiatry, Perlman School of Medicine, University of Pennsylvania, Philadelphia Pennsylvania 19104, USA.
Stephen A MurrayThe Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Funding
Staff InvestigatorsP30CA093373 · NCI · UNIVERSITY OF CALIFORNIA DAVIS · PI Laura Marcu · 2002 to 2026
$84.9MShared 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
$16.3MCancer Research UK 13031Medical Research Council MC_U142684171Medical Research Council MC_U142684172Medical Research Council MC_UP_1502/3NCI NIH HHS P30 CA034196NCI NIH HHS P30 CA093373NEI NIH HHS P30 EY002520NHGRI NIH HHS U54 HG006332NHGRI NIH HHS U54 HG006348NHGRI NIH HHS U54 HG006364NHGRI NIH HHS U54 HG006370NHGRI NIH HHS UM1 HG006348NHGRI NIH HHS UM1 HG006370NIDDK NIH HHS U2C DK092993NIH HHS U42 OD011174NIH HHS U42 OD011175NIH HHS U42 OD011185NIH HHS U42 OD012210NIH HHS UM1 OD023221NIH HHS UM1 OD023222Welcome TrustWellcome Trust
Abstract
Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5,000 knockout mouse lines, here we identify 410 lethal genes during the production of the first 1,751 unique gene knockouts. Using a standardized phenotyping platform that incorporates high-resolution 3D imaging, we identify phenotypes at multiple time points for previously uncharacterized genes and additional phenotypes for genes with previously reported mutant phenotypes. Unexpectedly, our analysis reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background. In addition, we show that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts.
Indexed as
PhenotypeAnimalsConserved SequenceDiseaseEmbryo, MammalianGenes, EssentialGenes, LethalGenome-Wide Association StudyHigh-Throughput Screening AssaysHumansImaging, Three-DimensionalMiceMice, Inbred C57BLMice, KnockoutMutationPenetrance
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