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Journal Articles Cell Year : 2013

Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes

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Abstract

Mutations in whole organisms are powerful ways of interrogating gene function in a realistic context. We describe a program, the Sanger Institute Mouse Genetics Project, that provides a step toward the aim of knocking out all genes and screening each line for a broad range of traits. We found that hitherto unpublished genes were as likely to reveal phenotypes as known genes, suggesting that novel genes represent a rich resource for investigating the molecular basis of disease. We found many unexpected phenotypes detected only because we screened for them, emphasizing the value of screening all mutants for a wide range of traits. Haploinsufficiency and pleiotropy were both surprisingly common. Forty-two percent of genes were essential for viability, and these were less likely to have a paralog and more likely to contribute to a protein complex than other genes. Phenotypic data and more than 900 mutants are openly available for further analysis.
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Origin : Publication funded by an institution

Dates and versions

inserm-03948727 , version 1 (20-01-2023)

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Jacqueline K White, Anna-Karin Gerdin, Natasha A Karp, Ed Ryder, Marija Buljan, et al.. Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes. Cell, 2013, 154, pp.452 - 464. ⟨10.1016/j.cell.2013.06.022⟩. ⟨inserm-03948727⟩

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