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Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes
,
Ed Ryder,
Marija Buljan,
Jennifer Salisbury,
James N. Bussell,
Simon Clare,
Christine Podrini,
Neil J. Ingham ,
Richard Houghton,
David G. Melvin,
Jeanne Estabel,
David Sunter,
Joanna R. Bottomley
and other authors.
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 We found that hitherto unpublished genes were as likely to reveal phenotypes as known genes, suggesting that novel genes represent a rich resource for investigating the molecular basis of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. PAPERCLIP: