Article

Mammalian Genome

, Volume 23, Issue 9, pp 600-610

Open Access This content is freely available online to anyone, anywhere at any time.

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

  • Abdel AyadiAffiliated withInstitut Clinique de la Souris, PHENOMIN, IGBMC/ICS-MCI, CNRS, INSERM, Université de Strasbourg, UMR7104, UMR964
  • , Marie-Christine BirlingAffiliated withInstitut Clinique de la Souris, PHENOMIN, IGBMC/ICS-MCI, CNRS, INSERM, Université de Strasbourg, UMR7104, UMR964
  • , Joanna BottomleyAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
  • , James BussellAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
  • , Helmut FuchsAffiliated withGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH)
  • , Martin FrayAffiliated withMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre)
  • , Valérie Gailus-DurnerAffiliated withGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH)
  • , Simon GreenawayAffiliated withMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre)
  • , Richard HoughtonAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
    • , Natasha KarpAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
    • , Sophie LeblancAffiliated withInstitut Clinique de la Souris, PHENOMIN, IGBMC/ICS-MCI, CNRS, INSERM, Université de Strasbourg, UMR7104, UMR964
    • , Christoph LenggerAffiliated withGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH)
    • , Holger MaierAffiliated withGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH)
    • , Ann-Marie MallonAffiliated withMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre)
    • , Susan MarschallAffiliated withGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH)
    • , David MelvinAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
    • , Hugh MorganAffiliated withMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre)
    • , Guillaume PavlovicAffiliated withInstitut Clinique de la Souris, PHENOMIN, IGBMC/ICS-MCI, CNRS, INSERM, Université de Strasbourg, UMR7104, UMR964
    • , Ed RyderAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
    • , William C. SkarnesAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
    • , Mohammed SelloumAffiliated withInstitut Clinique de la Souris, PHENOMIN, IGBMC/ICS-MCI, CNRS, INSERM, Université de Strasbourg, UMR7104, UMR964
    • , Ramiro Ramirez-SolisAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
    • , Tania SorgAffiliated withInstitut Clinique de la Souris, PHENOMIN, IGBMC/ICS-MCI, CNRS, INSERM, Université de Strasbourg, UMR7104, UMR964
    • , Lydia TeboulAffiliated withMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre)
    • , Laurent VasseurAffiliated withInstitut Clinique de la Souris, PHENOMIN, IGBMC/ICS-MCI, CNRS, INSERM, Université de Strasbourg, UMR7104, UMR964
    • , Alison WallingAffiliated withMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre)
    • , Tom WeaverAffiliated withMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre)
    • , Sara WellsAffiliated withMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre)
    • , Jacqui K. WhiteAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
    • , Allan BradleyAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
    • , David J. AdamsAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
    • , Karen P. SteelAffiliated withThe Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
    • , Martin Hrabě de AngelisAffiliated withGerman Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH)Chair of Experimental Genetics, Center of Life and Food Sciences Weihenstephan, TUM
    • , Steve D. BrownAffiliated withMedical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre)
    • , Yann HeraultAffiliated withInstitut Clinique de la Souris, PHENOMIN, IGBMC/ICS-MCI, CNRS, INSERM, Université de Strasbourg, UMR7104, UMR964 Email author 

Abstract

Two large-scale phenotyping efforts, the European Mouse Disease Clinic (EUMODIC) and the Wellcome Trust Sanger Institute Mouse Genetics Project (SANGER-MGP), started during the late 2000s with the aim to deliver a comprehensive assessment of phenotypes or to screen for robust indicators of diseases in mouse mutants. They both took advantage of available mouse mutant lines but predominantly of the embryonic stem (ES) cells resources derived from the European Conditional Mouse Mutagenesis programme (EUCOMM) and the Knockout Mouse Project (KOMP) to produce and study 799 mouse models that were systematically analysed with a comprehensive set of physiological and behavioural paradigms. They captured more than 400 variables and an additional panel of metadata describing the conditions of the tests. All the data are now available through EuroPhenome database (www.​europhenome.​org) and the WTSI mouse portal (http://​www.​sanger.​ac.​uk/​mouseportal/​), and the corresponding mouse lines are available through the European Mouse Mutant Archive (EMMA), the International Knockout Mouse Consortium (IKMC), or the Knockout Mouse Project (KOMP) Repository. Overall conclusions from both studies converged, with at least one phenotype scored in at least 80 % of the mutant lines. In addition, 57 % of the lines were viable, 13 % subviable, 30 % embryonic lethal, and 7 % displayed fertility impairments. These efforts provide an important underpinning for a future global programme that will undertake the complete functional annotation of the mammalian genome in the mouse model.