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

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• 作者：Jacqueline?K. White ; Anna-Karin Gerdin ; Natasha?A. Karp ; Ed Ryder ; Marija Buljan ; James?N. Bussell ; Jennifer Salisbury ; Simon Clare ; Neil?J. Ingham ; Christine Podrini ; Richard Houghton ; Jeanne Estabel ; Joanna?R. Bottomley ; David?G. Melvin ; David Sunter ; Niels?C. Adams ; The Sanger Institute Mouse Genetics Project ; David Tannahill ; Darren W. Logan ; Daniel G. MacArthur ; et al.
• 刊名：Cell
• 出版年：2013
• 出版时间：18 July, 2013
• 年：2013
• 卷：154
• 期：2
• 页码：452-464
• 全文大小：3563 K

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Summary

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 We found that hitherto unpublished genes were as likely to reveal phenotypes as known genes, suggesting that novel genes represent a rich resource for investigating the molecular basis of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