title: Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project.
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.
authors.affiliation: Institut Clinique de la Souris, PHENOMIN, IGBMC/ICS-MCI, CNRS, INSERM, Université de Strasbourg, UMR7104, UMR964, 1 rue Laurent Fries, 67404 Illkirch, France.
authors.forename: Abdel
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authors.lastname: Ayadi
authors.forename: Marie-Christine
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authors.lastname: Birling
authors.forename: Joanna
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authors.lastname: Bottomley
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authors.lastname: Bussell
authors.forename: Helmut
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authors.lastname: Gailus-Durner
authors.forename: Simon
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authors.forename: Richard
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authors.lastname: Houghton
authors.forename: Natasha
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authors.lastname: Karp
authors.forename: Sophie
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authors.lastname: Leblanc
authors.forename: Christoph
authors.initials: C
authors.lastname: Lengger
authors.forename: Holger
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authors.lastname: Maier
authors.forename: Ann-Marie
authors.initials: AM
authors.lastname: Mallon
authors.forename: Susan
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authors.lastname: Marschall
authors.forename: David
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authors.lastname: Melvin
authors.forename: Hugh
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authors.lastname: Morgan
authors.forename: Guillaume
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authors.lastname: Pavlovic
authors.forename: Ed
authors.initials: E
authors.lastname: Ryder
authors.forename: William C
authors.initials: WC
authors.lastname: Skarnes
authors.forename: Mohammed
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authors.lastname: Selloum
authors.forename: Ramiro
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authors.lastname: Ramirez-Solis
authors.forename: Tania
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authors.lastname: Sorg
authors.forename: Lydia
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authors.lastname: Teboul
authors.forename: Laurent
authors.initials: L
authors.lastname: Vasseur
authors.forename: Alison
authors.initials: A
authors.lastname: Walling
authors.forename: Tom
authors.initials: T
authors.lastname: Weaver
authors.forename: Sara
authors.initials: S
authors.lastname: Wells
authors.forename: Jacqui K
authors.initials: JK
authors.lastname: White
authors.forename: Allan
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authors.lastname: Bradley
authors.forename: David J
authors.initials: DJ
authors.lastname: Adams
authors.forename: Karen P
authors.initials: KP
authors.lastname: Steel
authors.forename: Martin
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authors.lastname: Hrabě de Angelis
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authors.initials: SD
authors.lastname: Brown
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authors.lastname: Herault
mesh_terms: D000818:Animals; D005060:Europe; D016678:Genome; D005854:Germ Cells; D051379:Mice / Q000235:genetics*; D009154:Mutation; D010641:Phenotype