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    Nature. 2016 Sep 14. pii: nature19356. doi: 10.1038/nature19356
    High-throughput discovery of novel developmental phenotypes.
    Dickinson ME1,  Flenniken AM2,  Ji X3,  Teboul L4,  Wong MD5,  White JK6,  Meehan TF7,  Weninger WJ8,  Westerberg H9,  Adissu H10,  Baker CN11,  Bower L12,  Brown JM13,  Caddle LB14,  Chiani F15,  Clary D16,  Cleak J17,  Daly MJ18,  Denegre JM19,  Doe B20,  Dolan ME21,  Edie SM22,  Fuchs H23,  Gailus-Durner V24,  Galli A25,  Gambadoro A26,  Gallegos J27,  Guo S28,  Horner NR29,  Hsu CW30,  Johnson SJ31,  Kalaga S32,  Keith LC33,  Lanoue L34,  Lawson TN35,  Lek M36,  Mark M37,  Marschall S38,  Mason J39,  McElwee ML40,  Newbigging S41,  Nutter LM42,  Peterson KA43,  Ramirez-Solis R44,  Rowland DJ45,  Ryder E46,  Samocha KE47,  Seavitt JR48,  Selloum M49,  Szoke-Kovacs Z50,  Tamura M51,  Trainor AG52,  Tudose I53,  Wakana S54,  Warren J55,  Wendling O56,  West DB57,  Wong L58,  Yoshiki A59,  MacArthur DG60,  Tocchini-Valentini GP61,  Gao X62,  Flicek P63,  Bradley A64,  Skarnes WC65,  Justice MJ66,  Parkinson HE67,  Moore M68,  Wells S69,  Braun RE70,  Svenson KL71,  de Angelis MH72,  Herault Y73,  Mohun T74,  Mallon AM75,  Henkelman RM76,  Brown SD77,  Adams DJ78,  Lloyd KC79,  McKerlie C80,  Beaudet AL81,  Bućan M82,  Murray SA83
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    Abstract

    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.


    Publikations ID: 27626380
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