PuSH - Publication Server of Helmholtz Zentrum München: Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function.

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Moore, B.A.* ; Flenniken, A.M.* ; Clary, D.* ; Moshiri, A.S.* ; Nutter, L.M.J.* ; Berberovic, Z.* ; Owen, C.* ; Newbigging, S.* ; Adissu, H.* ; Eskandarian, M.* ; McKerlie, C.* ; International Mouse Phenotyping Consortium (Hrabě de Angelis, M.) ; Tomasy, S.M.* ; Lloyd, K.C.K.* ; Murphy, C.J.* ; Moshiri, A.*

Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function.

Sci. Rep. 9:11211 (2019)

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Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens. Here we present novel genes that may be causative for oculocutaneous disease in humans, discovered as part of a genome-wide screen of knockout-mice in a targeted single-gene deletion project. The International Mouse Phenotyping Consortium (IMPC) database (data release 10.0) was interrogated for all mouse strains with integument abnormalities, which were then cross-referenced individually to identify knockouts with concomitant ocular abnormalities attributed to the same targeted gene deletion. The search yielded 307 knockout strains from unique genes with integument abnormalities, 226 of which have not been previously associated with oculocutaneous conditions. Of the 307 knockout strains with integument abnormalities, 52 were determined to have ocular changes attributed to the targeted deletion, 35 of which represent novel oculocutaneous genes. Some examples of various integument abnormalities are shown, as well as two examples of knockout strains with oculocutaneous phenotypes. Each of the novel genes provided here are potentially relevant to the pathophysiology of human integumentary, or oculocutaneous conditions, such as albinism, phakomatoses, or other multi-system syndromes. The novel genes reported here may implicate molecular pathways relevant to these human diseases and may contribute to the discovery of novel therapeutic targets.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Chediak-higashi-syndrome; Retinal-pigment Epithelium; Hermansky-pudlak-syndrome; Giant Granules; Mutation; Mice; Disorder; Cattle; Light; Model

ISSN (print) / ISBN 2045-2322

e-ISSN 2045-2322

Journal Scientific Reports

Quellenangaben Volume: 9, Article Number: 11211

Publisher Nature Publishing Group

Publishing Place London

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Experimental Genetics (IEG)