Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project |
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Authors: | Abdel Ayadi Marie-Christine Birling Joanna Bottomley James Bussell Helmut Fuchs Martin Fray Valérie Gailus-Durner Simon Greenaway Richard Houghton Natasha Karp Sophie Leblanc Christoph Lengger Holger Maier Ann-Marie Mallon Susan Marschall David Melvin Hugh Morgan Guillaume Pavlovic Ed Ryder William C. Skarnes Mohammed Selloum Ramiro Ramirez-Solis Tania Sorg Lydia Teboul Laurent Vasseur Alison Walling Tom Weaver Sara Wells Jacqui K. White Allan Bradley David J. Adams Karen P. Steel Martin Hrabě de Angelis Steve D. Brown Yann Herault |
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Affiliation: | 1. Institut Clinique de la Souris, PHENOMIN, IGBMC/ICS-MCI, CNRS, INSERM, Université de Strasbourg, UMR7104, UMR964, 1 rue Laurent Fries, 67404, Illkirch, France 2. The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK 3. German Mouse Clinic, Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolst?dter Landstra?e 1, 85764, Neuherberg/Munich, Germany 4. Medical Research Council Harwell (Mammalian Genetics Unit and Mary Lyon Centre), Harwell, Oxfordshire, OX11 0RD, UK 5. Chair of Experimental Genetics, Center of Life and Food Sciences Weihenstephan, TUM, 85350, Freising-Weihenstephan, Germany
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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. |
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