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Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.

TitleGenome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.
Publication TypeJournal Article
Year of Publication2013
AuthorsWhite, Jacqueline K., Gerdin Anna-Karin, Karp Natasha A., Ryder Ed, Buljan Marija, Bussell James N., Salisbury Jennifer, Clare Simon, Ingham Neil J., Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R., Melvin David G., Sunter David, Adams Niels C., Tannahill David, Logan Darren W., Macarthur Daniel G., Flint Jonathan, Mahajan Vinit B., Tsang Stephen H., Smyth Ian, Watt Fiona M., Skarnes William C., Dougan Gordon, Adams David J., Ramirez-Solis Ramiro, Bradley Allan, and Steel Karen P.
Corporate AuthorsSanger Institute Mouse Genetics Project
Date Published2013 Jul 18
KeywordsAnimals, Disease, Disease Models, Animal, Female, Genes, Essential, Genetic Techniques, Genome-Wide Association Study, Male, Mice, Mice, Knockout, Phenotype

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 We found that hitherto unpublished genes were as likely to reveal phenotypes as known genes, suggesting that novel genes represent a rich resource for investigating the molecular basis of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:

Alternate JournalCell