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Hrabě de Angelis, M. ; Nicholson, G.* ; Selloum, M.* ; White, J.K.* ; Morgan, H.* ; Ramirez-Solis, R.* ; Sorg, T.* ; Wells, S.* ; Fuchs, H. ; Fray, M.* ; Adams, D.J.* ; Adams, N.C.* ; Adler, T. ; Aguilar-Pimentel, J.A. ; Ali-Hadji, D.* ; Amann, G.* ; André, P.* ; Atkins, S.* ; Auburtin, A.* ; Ayadi, A.* ; Becker, J.* ; Becker, L. ; Bedu, E.* ; Bekeredjian, R. ; Birling, M.C.* ; Blake, A.* ; Bottomley, J.* ; Bowl, M.R.* ; Brault, V.* ; Busch, D.H.* ; Bussell, J.N.* ; Calzada-Wack, J. ; Cater, H.* ; Champy, M.F.* ; Charles, P.* ; Chevalier, C.* ; Chiani, F.* ; Codner, G.F.* ; Combe, R.* ; Cox, R.D.* ; Dalloneau, E.* ; Dierich, A.* ; di Fenza, A.* ; Doe, B.* ; Duchon, A.* ; Eickelberg, O. ; Esapa, C.T.* ; Fertak, L.E.* ; Feigel, T.* ; Emelyanova, I.* ; Estabel, J.* ; Favor, J. ; Flenniken, A.M.* ; Gambadoro, A.* ; Garrett, L. ; Gates, H.* ; Gerdin, A.K.* ; Gkoutos, G.V.* ; Greenaway, S.* ; Glasl, L. ; Goetz, P.* ; da Cruz, I.G.* ; Götz, A. ; Graw, J. ; Guimond, A.* ; Hans, W. ; Hicks, G.* ; Hölter, S.M. ; Höfler, H.* ; Hancock, J.M.* ; Hoehndorf, R.* ; Hough, T.* ; Houghton, R.* ; Hurt, A. ; Ivandic, B. ; Jacobs, H.* ; Jacquot, S.* ; Jones, N.* ; Karp, N.A.* ; Katus, H.A. ; Kitchen, S.* ; Klein-Rodewald, T. ; Klingenspor, M. ; Klopstock, T. ; Lalanne, V.* ; Leblanc, S.* ; Lengger, C. ; le Marchand, E.* ; Ludwig, T. ; Lux, A.* ; McKerlie, C.* ; Maier, H. ; Mandel, J.L.* ; Marschall, S. ; Mark, M.* ; Melvin, D.G.* ; Meziane, H.* ; Micklich, K. ; Mittelhauser, C.* ; Monassier, L.* ; Moulaert, D.* ; Müller, S.* ; Naton, B. ; Neff, F. ; Nolan, P.M.* ; Nutter, L.M.* ; Ollert, M. ; Pavlovic, G.* ; Pellegata, N.S. ; Peter, E.* ; Petit-Demoulière, B.* ; Pickard, A.* ; Podrini, C.* ; Potter, P.* ; Pouilly, L.* ; Puk, O. ; Richardson, D.* ; Rousseau, S.* ; Quintanilla-Fend, L. ; Quwailid, M.M.* ; Rácz, I. ; Rathkolb, B. ; Riet, F.* ; Rossant, J.* ; Roux, M.* ; Rozman, J. ; Ryder, E.* ; Salisbury, J.* ; Santos, L.* ; Schäble, K.-H. ; Schiller, E. ; Schrewe, A. ; Schulz, H. ; Steinkamp, R. ; Simon, M.* ; Stewart, M.* ; Stoeger, C. ; Stöger, T. ; Sun, M. ; Sunter, D.* ; Teboul, L.* ; Tilly, I.* ; Tocchini-Valentini, G.P.* ; Tost, M. ; Treise, I. ; Vasseur, L.* ; Velot, E.* ; Vogt Weisenhorn, D.M. ; Wagner, C.* ; Walling, A.* ; Wattenhofer-Donze, M.* ; Weber, B.* ; Wendling, O.* ; Westerberg, H.* ; Willershäuser, M. ; Wolf, E. ; Wolter, A.* ; Wood, J.* ; Wurst, W. ; Yildirim, A.Ö. ; Zeh, R. ; Zimmer, A. ; Zimprich, A. ; Holmes, C.* ; Steel, K.P.* ; Herault, Y.* ; Gailus-Durner, V. ; Mallon, A.M.* ; Brown, S.D.*

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.

Nat. Genet. 47, 969-978 (2015)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
The function of the majority of genes in the mouse and human genomes remains unknown. The mouse embryonic stem cell knockout resource provides a basis for the characterization of relationships between genes and phenotypes. The EUMODIC consortium developed and validated robust methodologies for the broad-based phenotyping of knockouts through a pipeline comprising 20 disease-oriented platforms. We developed new statistical methods for pipeline design and data analysis aimed at detecting reproducible phenotypes with high power. We acquired phenotype data from 449 mutant alleles, representing 320 unique genes, of which half had no previous functional annotation. We captured data from over 27,000 mice, finding that 83% of the mutant lines are phenodeviant, with 65% demonstrating pleiotropy. Surprisingly, we found significant differences in phenotype annotation according to zygosity. New phenotypes were uncovered for many genes with previously unknown function, providing a powerful basis for hypothesis generation and further investigation in diverse systems.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Knockout Mice; Genome-wide; Access; Europhenome; Annotation; Resource; Empress
Language english
Publication Year 2015
HGF-reported in Year 2015
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 47, Issue: 9, Pages: 969-978 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Reviewing status Peer reviewed
Institute(s) Institute of Experimental Genetics (IEG)
Institute of Pathology (PATH)
Institute of Lung Health and Immunity (LHI)
Institute of Human Genetics (IHG)
Institute of Developmental Genetics (IDG)
Institute of Epidemiology (EPI)
German Center for Diabetes Reseach (DZD)
POF-Topic(s) 30201 - Metabolic Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
90000 - German Center for Diabetes Research
30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
30202 - Environmental Health
30204 - Cell Programming and Repair
30503 - Chronic Diseases of the Lung and Allergies
Research field(s) Genetics and Epidemiology
Enabling and Novel Technologies
Lung Research
Helmholtz Diabetes Center
PSP Element(s) G-500600-001
G-500600-002
G-500692-001
G-501900-063
G-500300-001
G-505000-001
G-505000-007
G-500700-002
G-500500-001
G-500500-002
G-500500-005
G-503900-003
G-501900-066
G-501900-002
PubMed ID 26214591
DOI 10.1038/ng.3360
WOS ID WOS:000360394100005
Erfassungsdatum 2015-07-29
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