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

de Angelis, MH; Nicholson, G; Selloum, M; White, JK; Morgan, H; Ramirez-Solis, R; Sorg, T; ... Brown, SDM; + view all (2015) Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics. Nature Genetics , 47 pp. 969-978. 10.1038/ng.3360. Green open access

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Abstract

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.

Type: Article
Title: Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/ng.3360
Publisher version: https://doi.org/10.1038/ng.3360
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > The Ear Institute
URI: https://discovery.ucl.ac.uk/id/eprint/10112374
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