ArticleNature communications2018
Identification of genetic elements in metabolism by high-throughput mouse phenotyping.
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Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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48citing papers in PubMed
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Who cites it
48 citing papers in PubMed, 71 citations in OpenAlex.
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- Quantitative dissection of sexual dimorphism in mice through Y-linked gene knockouts and multivariate phenotyping.Scientific reports · 2026Article
- GWAS-based polygenic profiling across broad sport categories: shared and category-specific genetic associations with athlete status and polygenic differences from population controls.Frontiers in sports and active living · 2026Article
- ODBAE: a high-performance model identifying complex phenotypes in high-dimensional biological datasets.Communications biology · 2025Article
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- A consensus guide to preclinical indirect calorimetry experiments.Nature metabolism · 2025Review
- Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen.PLoS genetics · 2025Article
- IMPC impact on preclinical mouse models.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- 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
- The mouse metabolic phenotyping center (MMPC) live consortium: an NIH resource for in vivo characterization of mouse models of diabetes and obesity.Mammalian genome : official journal of the International Mammalian Genome Society · 2024Review
- Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.Human molecular genetics · 2023Article
- A review of standardized high-throughput cardiovascular phenotyping with a link to metabolism in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.Nucleic acids research · 2023Article
- Multivariate phenotype analysis enables genome-wide inference of mammalian gene function.PLoS biology · 2022Article
- Sfrp4 and the Biology of Cortical Bone.Current osteoporosis reports · 2022Review
- Progress towards completing the mutant mouse null resource.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Article
- Asian Mouse Mutagenesis Resource Association (AMMRA): mouse genetics and laboratory animal resources in the Asia Pacific.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Review
- Metabolic effects of the schizophrenia-associated 3q29 deletion.Translational psychiatry · 2022Article
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Authors and funding
65 authors at 20 institutions in 15 countries.
Jan RozmanGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.ORCID http://orcid.org/0000-0002-8035-8904
Birgit RathkolbGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Manuela A OestereicherGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Christine SchüttGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Aakash Chavan RavindranathGerman Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Stefanie LeuchtenbergerGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Sapna SharmaGerman Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Martin KistlerGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.ORCID http://orcid.org/0000-0003-0116-7761
Monja WillershäuserChair of Molecular Nutritional Medicine, Technical University of Munich, TUM School of Life Sciences Weihenstephan, 85354, Freising, Germany.
Robert BrommageGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Terrence F MeehanEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Jeremy MasonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.ORCID http://orcid.org/0000-0002-2796-5123
Hamed HaselimashhadiEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
IMPC Consortium
Tertius HoughMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Oxfordshire, OX11 0RD, UK.
Ann-Marie MallonMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Oxfordshire, OX11 0RD, UK.
Sara WellsMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Oxfordshire, OX11 0RD, UK.
Luis SantosMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Oxfordshire, OX11 0RD, UK.
Christopher J LelliottThe Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.ORCID http://orcid.org/0000-0001-8087-4530
Jacqueline K WhiteThe Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
Tania SorgCELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), 1 Rue Laurent Fries, 67404, Illkirch-Graffenstaden, France.
Marie-France ChampyCELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), 1 Rue Laurent Fries, 67404, Illkirch-Graffenstaden, France.
Lynette R BowerMouse Biology Program, University of California, One Shields Avenue, Davis, CA, 95616, USA.
Corey L ReynoldsDepartment of Molecular and Human Genetics, Baylor College of Medicine, 7702 Main St, Houston Medical Center, Houston, TX, 77030-4406, USA.
Ann M FlennikenThe Centre for Phenogenomics, 25 Orde St, Toronto, M5T 3H7, ON, Canada.
Stephen A MurrayThe Jackson Laboratory, 600 Main Street, Bar Harbor, ME, 04609, USA.
Lauryl M J NutterThe Centre for Phenogenomics, 25 Orde St, Toronto, M5T 3H7, ON, Canada.
Karen L SvensonThe Jackson Laboratory, 600 Main Street, Bar Harbor, ME, 04609, USA.
David WestChildren's Hospital Oakland Research Institute, 5700 Martin Luther King Jr. Way, Oakland, CA, 94609, USA.
Glauco P Tocchini-ValentiniMonterotondo Mouse Clinic, Italian National Research Council (CNR), Institute of Cell Biology and Neurobiology, Adriano Buzzati-Traverso Campus, Via E. Ramarini 32, Monterotondo Scalo, RM, 00015, Italy.
Arthur L BeaudetThe Centre for Phenogenomics, 25 Orde St, Toronto, M5T 3H7, ON, Canada.
Fatima BoschCenter of Animal Biotechnology and Gene Therapy and Department of Biochemistry and Molecular Biology, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Robert B BraunThe Jackson Laboratory, 600 Main Street, Bar Harbor, ME, 04609, USA.
Michael S DobbieAustralian Phenomics Network, John Curtin School of Medical Research, Australian National University, 131 Garran Road, Canberra, ACT, 2601, Australia.
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.
Yann HeraultCELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), 1 Rue Laurent Fries, 67404, Illkirch-Graffenstaden, France.ORCID http://orcid.org/0000-0001-7049-6900
Ala MoshiriDepartment of Ophthalmology & Vision Science, School of Medicine, U.C. Davis, 77 Cadillac Drive, Sacramento, 95825, CA, USA.
Bret A MooreWilliam R. Pritchard Veterinary Medical Teaching Hospital, School of Veterinary Medicine, U.C. Davis, One Shields Avenue, Davis, 95616, CA, USA.
K C Kent LloydMouse Biology Program, University of California, One Shields Avenue, Davis, CA, 95616, USA.ORCID http://orcid.org/0000-0002-5318-4144
Colin McKerlieThe Centre for Phenogenomics, 25 Orde St, Toronto, M5T 3H7, ON, Canada.ORCID http://orcid.org/0000-0002-2232-0967
Hiroshi MasuyaRIKEN BioResource Center, 3-1-1 Koyadai, Tsukuba, Ibaraki, 305-0074, Japan.
Nobuhiko TanakaRIKEN BioResource Center, 3-1-1 Koyadai, Tsukuba, Ibaraki, 305-0074, Japan.
Paul FlicekEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.ORCID http://orcid.org/0000-0002-3897-7955
Helen E ParkinsonEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Radislav SedlacekCzech Centre for Phenogenomics, Institute of Molecular Genetics, Prumyslova 595, 252 50, Vestec, Czech Republic.
Je Kyung 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, 151-742, South Korea.
Chi-Kuang Leo WangNational Laboratory Animal Center, National Applied Research Laboratories (NARLabs), 128 Yen-Chiou-Yuan Rd., Sec. 2, Nankang, Taipei, 11529, Taiwan.
Mark MooreIMPC, San Anselmo, CA, 94960, USA.
Steve D BrownMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Oxfordshire, OX11 0RD, UK.
Matthias H TschöpGerman Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Wolfgang WurstInstitute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Ingolstädter Landstrasse 1, 85764, Neuherberg, Germany.
Martin KlingensporChair of Molecular Nutritional Medicine, Technical University of Munich, TUM School of Life Sciences Weihenstephan, 85354, Freising, Germany.
Eckhard WolfGerman Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Johannes BeckersGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Fausto MachicaoDepartment of Internal Medicine, Division of Endocrinology, Diabetology, Vascular Medicine, Nephrology and Clinical Chemistry, University of Tübingen, 72076, Tübingen, Germany.
Andreas PeterGerman Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Harald StaigerGerman Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Hans-Ulrich HäringGerman Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Harald GrallertGerman Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Monica CampillosGerman Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Holger MaierGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.ORCID http://orcid.org/0000-0003-2514-8290
Helmut FuchsGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.ORCID http://orcid.org/0000-0002-5143-2677
Valerie Gailus-DurnerGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany.
Thomas WernerInternal Medicine Nephrology and Center for Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI, 48109, USA.
Martin Hrabe de AngelisGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany. hrabe@helmholtz-muenchen.de.ORCID http://orcid.org/0000-0002-7898-2353
Helmholtz Zentrum München · DEHospital for Sick Children · CAWellcome Sanger Institute · GBNational Research Council · ITMary Lyon Centre at MRC Harwell · GBUniversity of California, Davis · USBaylor College of Medicine · USRIKEN BioResource Research Center · JPEuropean Bioinformatics Institute · GBCentre National de la Recherche Scientifique · FRDeutsches Diabetes-Zentrum e.V. · DECzech Academy of Sciences, Institute of Molecular Genetics · CZJackson Laboratory · USCharles River Laboratories (United States) · USElse Kröner-Fresenius-Stiftung · DEGerman Center for Neurodegenerative Diseases · DENational Cancer Center · KRQueen Mary University of London · GBAustralian National University · AUEnZinc (United States) · US
Funding
UM1HG006348: 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
$16.0MThe Jackson Laboratory KOMP2 Phenotyping CenterU54HG006332 · NHGRI · JACKSON LABORATORY · PI BRAUN, ROBERT E, SVENSON, KAREN L · 2011 to 2015
$12.8MMedical Research Council G0300212Medical Research Council MC_QA137918Medical Research Council MC_U142684171Medical Research Council MC_U142684172Medical Research Council MC_UP_1502/3Medical Research Council MR/N012119/1NCRR NIH HHS U42 RR024244NCRR NIH HHS U42 RR033193NEI NIH HHS K08 EY027463NHGRI 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 U24 DK092993NIDDK NIH HHS U2C DK092993NIH HHS R24 OD011883NIH HHS U42 OD011174NIH HHS U42 OD011175NIH HHS U42 OD011185NIH HHS U42 OD012210NIH HHS UM1 OD023221NIH HHS UM1 OD023222Wellcome Trust
Abstract
Metabolic diseases are a worldwide problem but the underlying genetic factors and their relevance to metabolic disease remain incompletely understood. Genome-wide research is needed to characterize so-far unannotated mammalian metabolic genes. Here, we generate and analyze metabolic phenotypic data of 2016 knockout mouse strains under the aegis of the International Mouse Phenotyping Consortium (IMPC) and find 974 gene knockouts with strong metabolic phenotypes. 429 of those had no previous link to metabolism and 51 genes remain functionally completely unannotated. We compared human orthologues of these uncharacterized genes in five GWAS consortia and indeed 23 candidate genes are associated with metabolic disease. We further identify common regulatory elements in promoters of candidate genes. As each regulatory element is composed of several transcription factor binding sites, our data reveal an extensive metabolic phenotype-associated network of co-regulated genes. Our systematic mouse phenotype analysis thus paves the way for full functional annotation of the genome.
Indexed as
AnimalsArea Under CurveBasal MetabolismBlood GlucoseBody WeightDiabetes Mellitus, Type 2Gene Regulatory NetworksGenome-Wide Association StudyHigh-Throughput Screening AssaysHumansMetabolic DiseasesMiceMice, KnockoutObesityOxygen ConsumptionPhenotypeBlood GlucoseTriglycerides
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