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Review
. 2012 Oct;23(9-10):600-10.
doi: 10.1007/s00335-012-9418-y. Epub 2012 Sep 9.

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  1 , 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
Affiliations
Review

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 et al. Mamm Genome. 2012 Oct.

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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Figures

Fig. 1
Fig. 1
Flowchart for ES cells injection and mouse breeding strategies for cohort production. Targeted ES cells were injected to generate chimeric animals. After germline transmission of the mutant allele, the heterozygous mice were bred for pedigree expansion, archiving, distribution, and cohort production. Depending on the fertility score, heterozygous or homozygous matings were used to generate cohorts of animals for mouse phenotyping
Fig. 2
Fig. 2
Schematic overview of the EUMODIC and MGP pipelines. The Sanger MGP pipeline started at the age of 4 weeks and ended at 16 weeks of age, whereas the EUMODIC programme encompasses two pipelines, 1 and 2, which started at 9 weeks and were completed after 7 and 6 weeks, respectively. The phenotyping platforms used in these pipelines are indicated
See this image and copyright information in PMC

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