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

被引：105

作者：

Ayadi, Abdel ^{[1
]}

Birling, Marie-Christine ^{[1
]}

Bottomley, Joanna ^{[2
]}

Bussell, James ^{[2
]}

Fuchs, Helmut ^{[3
]}

Fray, Martin ^{[4
,5
]}

Gailus-Durner, Valerie ^{[3
]}

Greenaway, Simon ^{[4
,5
]}

Houghton, Richard ^{[2
]}

Karp, Natasha ^{[2
]}

Leblanc, Sophie ^{[1
]}

Lengger, Christoph ^{[3
]}

Maier, Holger ^{[3
]}

Mallon, Ann-Marie ^{[4
,5
]}

Marschall, Susan ^{[3
]}

Melvin, David ^{[2
]}

Morgan, Hugh ^{[4
,5
]}

Pavlovic, Guillaume ^{[1
]}

Ryder, Ed ^{[2
]}

Skarnes, William C. ^{[2
]}

Selloum, Mohammed ^{[1
]}

Ramirez-Solis, Ramiro ^{[2
]}

Sorg, Tania ^{[1
]}

Teboul, Lydia ^{[4
,5
]}

Vasseur, Laurent ^{[1
]}

Walling, Alison ^{[4
,5
]}

Weaver, Tom ^{[4
,5
]}

Wells, Sara ^{[4
,5
]}

White, Jacqui K. ^{[2
]}

Bradley, Allan ^{[2
]}

Adams, David J. ^{[2
]}

Steel, Karen P. ^{[2
]}

de Angelis, Martin Hrabe ^{[3
,6
]}

Brown, Steve D. ^{[4
,5
]}

Herault, Yann ^{[1
]}

机构：

[1] Univ Strasbourg, UMR7104, Inst Clin Souris, PHENOMIN,IGBMC ICS MCI,CNRS,INSERM, F-67404 Illkirch Graffenstaden, France

[2] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

[3] German Res Ctr Environm Hlth GmbH, Inst Expt Genet, German Mouse Clin, Helmholtz Zentrum Munchen, D-85764 Neuherberg, Germany

[4] Med Res Council Harwell, Mammalian Genet Unit, Harwell OX11 0RD, Oxon, England

[5] Med Res Council Harwell, Mary Lyon Centre, Harwell OX11 0RD, Oxon, England

[6] TUM, Chair Expt Genet, Ctr Life & Food Sci Weihenstephan, D-85350 Freising Weihenstephan, Germany

来源：

MAMMALIAN GENOME | 2012年 / 23卷 / 9-10期

基金：

英国惠康基金;

关键词：

GENOME-WIDE; FUNCTIONAL ANNOTATION; ENU-MUTAGENESIS; MUTANT MICE; RESOURCES; MUTATIONS; SCREEN; CELLS;

D O I：

10.1007/s00335-012-9418-y

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：600 / 610

页数：11

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