Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
Cell. 2013 Jul 18;154(2):452-64. doi: 10.1016/j.cell.2013.06.022.
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 We found that hitherto unpublished genes were as likely to reveal phenotypes as known genes, suggesting that novel genes represent a rich resource for investigating the molecular basis of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:
在整个生物体中发生突变是一种在现实环境中研究基因功能的强有力方法。我们描述了一个项目，即桑格研究所小鼠遗传学计划，该计划朝着敲除所有基因并对广泛的性状进行筛选的目标迈出了一步。我们发现，以前未公布的基因与已知基因一样有可能揭示表型，这表明新基因是研究疾病分子基础的丰富资源。我们发现了许多意想不到的表型，这些表型仅因为我们进行了筛选才被发现，这强调了对广泛的性状进行所有突变体筛选的价值。单倍不足和表型多效性都非常常见。42%的基因对生存是必需的，这些基因与同源基因的关系较少，与蛋白复合物的关系较多。表型数据和 900 多个突变体可供进一步分析使用。PAPERCLIP：
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