High-throughput discovery of novel developmental phenotypes

DOI DOI HANDLE PDF Web Site ほか1件をすべて表示 一部だけ表示 被引用文献62件 参考文献59件

書誌事項

公開日
2016-09-14
資源種別
journal article
権利情報
  • https://www.springer.com/tdm
  • https://www.springer.com/tdm
DOI
  • 10.1038/nature19356
  • 10.17863/cam.58893
公開者
Springer Science and Business Media LLC

この論文をさがす

説明

Approximately one-third of all mammalian genes are essential for life. Phenotypes resulting from knockouts of these genes in mice have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5,000 knockout mouse lines, here we identify 410 lethal genes during the production of the first 1,751 unique gene knockouts. Using a standardized phenotyping platform that incorporates high-resolution 3D imaging, we identify phenotypes at multiple time points for previously uncharacterized genes and additional phenotypes for genes with previously reported mutant phenotypes. Unexpectedly, our analysis reveals that incomplete penetrance and variable expressivity are common even on a defined genetic background. In addition, we show that human disease genes are enriched for essential genes, thus providing a dataset that facilitates the prioritization and validation of mutations identified in clinical sequencing efforts.

収録刊行物

  • Nature

    Nature 537 (7621), 508-514, 2016-09-14

    Springer Science and Business Media LLC

被引用文献 (62)*注記

もっと見る

参考文献 (59)*注記

もっと見る

関連プロジェクト

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ