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

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. SkarnesMohammed 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

Research output: Contribution to journalArticlepeer-review

113 Scopus citations

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.euro phenome.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.

Original languageEnglish
Pages (from-to)600-610
Number of pages11
JournalMammalian Genome
Volume23
Issue number9-10
DOIs
StatePublished - Oct 2012

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