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Ayadi, A.* ; Birling, M.-C.* ; Bottomley, J.* ; Bussel, L.* ; Fuchs, H. ; Frayx, M.* ; Gailus-Durner, V. ; Greenaway, S.* ; Houghton, R.* ; Karp, N.* ; Leblanc, S.* ; Lengger, C. ; Maier, H. ; Mallon, A.-M.* ; Marschall, S. ; Melvin, D.* ; Morgan, H.* ; Pavlovic, G.* ; Ryder, E.* ; Skarnes, W.C.* ; Selloum, M.* ; Ramirez-Solis, R.* ; Sorg, T.* ; Teboul, L.* ; Vasseur, L.* ; Walling, A.* ; Weaver, T.* ; Wells, S.* ; White, J.K.* ; Bradley, A.* ; Adams, D.J.* ; Steel, K. P.* ; Hrabě de Angelis, M. ; Brown, S.D.* ; Herault, Y.*

Mouse large-scale phenotyping initiatives: Overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute mouse genetics project.

Mamm. Genome 23, 600-610 (2012)
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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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Publication type Article: Journal article
Document type Scientific Article
Keywords MUTAGENESIS PROGRAM; ENU-MUTAGENESIS; GENOME-WIDE; FUNCTIONAL ANNOTATION; MUTANT MICE; RESOURCES; MUTATIONS; SCREENS; CELLS
Language english
Publication Year 2012
HGF-reported in Year 2012
ISSN (print) / ISBN 0938-8990
e-ISSN 1432-1777
Journal Mammalian Genome
Quellenangaben Volume: 23, Issue: 9-10, Pages: 600-610 Article Number: , Supplement: ,
Publisher Springer
Reviewing status Peer reviewed
Institute(s) Institute of Experimental Genetics (IEG)
POF-Topic(s) 30201 - Metabolic Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500600-003
G-500600-001
G-500600-002
PubMed ID 22961258
DOI 10.1007/s00335-012-9418-y
WOS ID WOS:000309543200012
Scopus ID 84867332582
Erfassungsdatum 2012-11-05
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