ArticlePLoS genetics2020
Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.
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Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24citing papers in PubMed
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Who cites it
24 citing papers in PubMed, 30 citations in OpenAlex.
- Membrane-initiated estrogen receptor-α signaling in the hypothalamus regulates trabecular bone in femur in female mice.The Journal of endocrinology · 2026Article
- Large-scale mouse mutagenesis identifies novel genes affecting vertebral anatomy.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Integrative analysis reveals synergistic regulation of Sp7 by BRD9 and Wnt/β-catenin signaling during osteogenic differentiation.Communications biology · 2025Article
- ODBAE: a high-performance model identifying complex phenotypes in high-dimensional biological datasets.Communications biology · 2025Article
- IMPC impact on preclinical mouse models.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Dnmt3a-mediated hypermethylation of FoxO3 promotes redox imbalance during osteoclastogenesis.Proceedings of the National Academy of Sciences of the United States of America · 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
- The Role of Aryl Hydrocarbon Receptor in Bone Biology.International journal of tryptophan research : IJTR · 2024Review
- Exploring the mechanism of artificial selection signature in Chinese indigenous pigs by leveraging multiple bioinformatics database tools.BMC genomics · 2023Article
- The role of DNA methylation on gene expression in the vertebrae of ancestrally benzo[a]pyrene exposed F1 and F3 male medaka.Epigenetics · 2023Article
- Single-Cell Integration of BMD GWAS Results Prioritize Candidate Genes Influencing Age-Related Bone Loss.JBMR plus · 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
- AdaLiftOver: high-resolution identification of orthologous regulatory elements with Adaptive liftOver.Bioinformatics (Oxford, England) · 2023Article
- Article
- The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.Nucleic acids research · 2023Article
- Finding the genes for fragile bones.eLife · 2022Article
- Article
- Progress towards completing the mutant mouse null resource.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Article
- Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.Nature cardiovascular research · 2022Article
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Authors and funding
65 authors at 15 institutions in 7 countries.
Anna L SwanMRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, United Kingdom.ORCID 0000-0003-1810-3756
Christine SchüttGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.
Jan RozmanGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.ORCID 0000-0002-8035-8904
Maria Del Mar Muñiz MorenoUniversité de Strasbourg, CNRS, INSERM, IGBMC, Illkirch, France.ORCID 0000-0002-2662-890X
Stefan BrandmaierGerman Center for Diabetes Research (DZD), Neuherberg, Germany.
Michelle SimonMRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, United Kingdom.
Stefanie LeuchtenbergerGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.ORCID 0000-0003-2475-0810
Mark GriffithsMouse Informatics Group, Wellcome Sanger Institute, Hinxton, United Kingdom.
Robert BrommageGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.ORCID 0000-0002-9947-3822
Piia Keskivali-BondMRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, United Kingdom.
Harald GrallertGerman Center for Diabetes Research (DZD), Neuherberg, Germany.ORCID 0000-0002-6876-9655
Thomas WernerInternal Medicine Nephrology and Center for Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America.ORCID 0000-0003-0402-4539
Raffaele TeperinoGerman Center for Diabetes Research (DZD), Neuherberg, Germany.ORCID 0000-0001-8815-1409
Lore BeckerGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.ORCID 0000-0002-6890-4984
Gregor MillerGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.ORCID 0000-0002-4281-4905
Ala MoshiriUniversity of California-Davis School of Medicine, Sacramento, California, United States of America.
John R SeavittMolecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.ORCID 0000-0003-3209-3187
Derek D CissellDepartment of Surgical & Radiological Sciences, University of California, Davis, California, United States of America.ORCID 0000-0002-6450-422X
Terrence F MeehanEuropean Molecular Biology Laboratory- European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, United Kingdom.
Elif F AcarThe Center for Phenogenomics, Toronto, Ontario, Canada.ORCID 0000-0003-2908-7691
Christopher J LelliottMouse Pipelines, Wellcome Sanger Institute, Hinxton, United Kingdom.ORCID 0000-0001-8087-4530
Ann M FlennikenThe Center for Phenogenomics, Toronto, Ontario, Canada.
Marie-France ChampyUniversité de Strasbourg, CNRS, INSERM, IGBMC, PHENOMIN-ICS, Illkirch, France.
Tania SorgUniversité de Strasbourg, CNRS, INSERM, IGBMC, PHENOMIN-ICS, Illkirch, France.
Abdel AyadiUniversité de Strasbourg, CNRS, INSERM, IGBMC, PHENOMIN-ICS, Illkirch, France.
Robert E BraunThe Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, United States of America.ORCID 0000-0003-3856-9465
Heather CaterMRC Harwell Institute, Mary Lyon Centre, Harwell Campus, Oxfordshire, United Kingdom.ORCID 0000-0002-8696-6070
Mary E DickinsonMolecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Paul FlicekEuropean Molecular Biology Laboratory- European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, United Kingdom.ORCID 0000-0002-3897-7955
Juan GallegosMolecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
Elena J GhirardelloMolecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, Hammersmith Campus, London, United Kingdom.ORCID 0000-0002-1100-9217
Jason D HeaneyMolecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.ORCID 0000-0001-8475-8828
Sylvie JacquotUniversité de Strasbourg, CNRS, INSERM, IGBMC, PHENOMIN-ICS, Illkirch, France.
Connor LallyMRC Harwell Institute, Mary Lyon Centre, Harwell Campus, Oxfordshire, United Kingdom.ORCID 0000-0002-3801-1966
John G LoganMolecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, Hammersmith Campus, London, United Kingdom.ORCID 0000-0003-2801-700X
Lydia TeboulMRC Harwell Institute, Mary Lyon Centre, Harwell Campus, Oxfordshire, United Kingdom.
Jeremy MasonEuropean Molecular Biology Laboratory- European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, United Kingdom.ORCID 0000-0002-2796-5123
Nadine SpielmannGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.
Colin McKerlieThe Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Stephen A MurrayThe Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, United States of America.
Lauryl M J NutterThe Center for Phenogenomics, Toronto, Ontario, Canada.ORCID 0000-0001-9619-146X
Kristian F OdfalkAdvanced Technologies Cores, Baylor College of Medicine, One Baylor Plaza, Houston Texas, United States of America.ORCID 0000-0003-4152-4583
Helen ParkinsonEuropean Molecular Biology Laboratory- European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, United Kingdom.
Jan ProchazkaCzech Center for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences,Vestec, Czech Republic.ORCID 0000-0003-4675-8995
Corey L ReynoldsDepartments of Molecular Physiology & Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston,Texas, United States of America.
Mohammed SelloumUniversité de Strasbourg, CNRS, INSERM, IGBMC, PHENOMIN-ICS, Illkirch, France.ORCID 0000-0003-4057-3519
Frantisek SpoutilCzech Center for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences,Vestec, Czech Republic.ORCID 0000-0002-7310-3487
Karen L SvensonThe Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, United States of America.ORCID 0000-0002-7928-1911
Taylor S ValesAdvanced Technologies Cores, Baylor College of Medicine, One Baylor Plaza, Houston Texas, United States of America.ORCID 0000-0001-9751-5681
Sara E WellsMRC Harwell Institute, Mary Lyon Centre, Harwell Campus, Oxfordshire, United Kingdom.ORCID 0000-0002-0572-0600
Jacqueline K WhiteThe Jackson Laboratory, 600 Main Street, Bar Harbor, Maine, United States of America.ORCID 0000-0001-6268-2826
Radislav SedlacekCzech Center for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences,Vestec, Czech Republic.ORCID 0000-0002-3352-392X
Wolfgang WurstInstitute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.ORCID 0000-0003-4422-7410
K C Kent LloydDepartment of Surgery, School of Medicine and Mouse Biology Program, University of California Davis.ORCID 0000-0002-5318-4144
Peter I CroucherGarvan Institute of Medical Research, Sydney, New South Wales, Australia.
Helmut FuchsGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.
Graham R WilliamsMolecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, Hammersmith Campus, London, United Kingdom.ORCID 0000-0002-8555-8219
J H Duncan BassettMolecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London, Hammersmith Campus, London, United Kingdom.
Valerie Gailus-DurnerGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.
Yann HeraultUniversité de Strasbourg, CNRS, INSERM, IGBMC, Illkirch, France.ORCID 0000-0001-7049-6900
Ann-Marie MallonMRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, United Kingdom.
Steve D M BrownMRC Harwell Institute, Mammalian Genetics Unit, Harwell Campus, Oxfordshire, United Kingdom.ORCID 0000-0002-0617-4824
Philipp Mayer-KuckukGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.
Martin Hrabe de AngelisGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health GmbH, Neuherberg, Germany.ORCID 0000-0002-7898-2353
IMPC Consortium
Helmholtz Zentrum München · DEMary Lyon Centre at MRC Harwell · GBBaylor College of Medicine · USCentre National de la Recherche Scientifique · FREuropean Bioinformatics Institute · GBHammersmith Hospital · GBJackson Laboratory · USCzech Academy of Sciences, Institute of Molecular Genetics · CZUniversity of California, Davis · USLunenfeld-Tanenbaum Research Institute · CAUniversity of Toronto · CAWellcome Sanger Institute · GBGarvan Institute of Medical Research · AUGerman Center for Neurodegenerative Diseases · DEUniversity of Michigan · US
Funding
Shared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI Mark D ADAMS · 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
$45.7MMouse 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
$18.9MKOMP Phase II Mouse PhenotypingU54HG006364 · NHGRI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI LLOYD, KC KENT · 2011 to 2015
$16.3MThe Role of ARAP1 in Retinal Photoreceptor HomeostasisK08EY027463 · NEI · UNIVERSITY OF CALIFORNIA AT DAVIS · PI MOSHIRI, ALA · 2017 to 2021
$1.0MMedical Research Council MC_A410Medical Research Council MC_U142684171Medical Research Council MC_U142684172NCI NIH HHS P30 CA034196NEI NIH HHS K08 EY027463NHGRI NIH HHS U54 HG006364NHGRI NIH HHS UM1 HG006348NHGRI NIH HHS UM1 HG006370NIH HHS U42 OD011175NIH HHS UM1 OD023221NIH HHS UM1 OD023222Wellcome Trust 101123Wellcome Trust 110141/Z/15/Z
Abstract
The genetic landscape of diseases associated with changes in bone mineral density (BMD), such as osteoporosis, is only partially understood. Here, we explored data from 3,823 mutant mouse strains for BMD, a measure that is frequently altered in a range of bone pathologies, including osteoporosis. A total of 200 genes were found to significantly affect BMD. This pool of BMD genes comprised 141 genes with previously unknown functions in bone biology and was complementary to pools derived from recent human studies. Nineteen of the 141 genes also caused skeletal abnormalities. Examination of the BMD genes in osteoclasts and osteoblasts underscored BMD pathways, including vesicle transport, in these cells and together with in silico bone turnover studies resulted in the prioritization of candidate genes for further investigation. Overall, the results add novel pathophysiological and molecular insight into bone health and disease.
Indexed as
AnimalsBone DensityFemaleGene Expression RegulationGene OntologyGenetic PleiotropyGenome-Wide Association StudyGenotypeMaleMiceMice, TransgenicMutationOsteoblastsOsteoclastsOsteoporosisPhenotype
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