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Moore, B.A.* ; Leonard, B.C.* ; Sebbag, L.* ; Edwards, S.G.* ; Cooper, A.* ; Imai, D.M.* ; Straiton, E.* ; Santos, L.* ; Reilly, C.* ; Griffey, S.M.* ; Bower, L.* ; Clary, D.* ; Mason, J.* ; Roux, M.J.* ; Meziane, H.* ; Herault, Y.* ; McKerlie, C.* ; Flenniken, A.M.* ; Nutter, L.M.J.* ; Berberovic, Z.* ; Owen, C.* ; Newbigging, S.* ; Adissu, H.* ; Eskandarian, M.* ; Hsu, C.W.* ; Kalaga, S.* ; Udensi, U.* ; Asomugha, C.* ; Bohat, R.* ; Gallegos, J.J.* ; Seavitt, J.R.* ; Heaney, J.D.* ; Beaudet, A.L.* ; Dickinson, M.E.* ; Justice, M.J.* ; Philip, V.* ; Kumar, V.* ; Svenson, K.L.* ; Braun, R.E.* ; Wells, S.* ; Cater, H.* ; Stewart, M.* ; Clementson-Mobbs, S.* ; Joynson, R.* ; Gao, X.* ; Suzuki, T.* ; Wakana, S.* ; Smedley, D.* ; Seong, J.K.* ; Tocchini-Valentini, G.* ; Moore, M.* ; Fletcher, C.* ; Karp, N.* ; Ramirez-Solis, R.* ; White, J.K.* ; Hrabě de Angelis, M. ; Wurst, W. ; Thomasy, S.M.* ; Flicek, P.* ; Parkinson, H.* ; Brown, S.D.M.* ; Meehan, T.F.* ; Nishina, P.M.* ; Murray, S.A.* ; Krebs, M.P.* ; Mallon, A.M.* ; Lloyd, K.C.K.* ; Murphy, C.J.* ; Moshiri, A.*

Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Comm. Biol. 1:236 (2018)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Despite advances in next generation sequencing technologies, determining the genetic basis of ocular disease remains a major challenge due to the limited access and prohibitive cost of human forward genetics. Thus, less than 4,000 genes currently have available phenotype information for any organ system. Here we report the ophthalmic findings from the International Mouse Phenotyping Consortium, a large-scale functional genetic screen with the goal of generating and phenotyping a null mutant for every mouse gene. Of 4364 genes evaluated, 347 were identified to influence ocular phenotypes, 75% of which are entirely novel in ocular pathology. This discovery greatly increases the current number of genes known to contribute to ophthalmic disease, and it is likely that many of the genes will subsequently prove to be important in human ocular development and disease.
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Publication type Article: Journal article
Document type Scientific Article
Language english
Publication Year 2018
HGF-reported in Year 2018
ISSN (print) / ISBN 2399-3642
e-ISSN 2399-3642
Journal Communications Biology
Quellenangaben Volume: 1, Issue: , Pages: , Article Number: 236 Supplement: ,
Publisher Springer
Publishing Place London
Reviewing status Peer reviewed
Institute(s) Institute of Experimental Genetics (IEG)
Institute of Developmental Genetics (IDG)
POF-Topic(s) 30201 - Metabolic Health
30204 - Cell Programming and Repair
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500600-001
G-500500-001
DOI 10.1038/s42003-018-0226-0
PubMed ID 30588515
Erfassungsdatum 2019-01-08
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