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10.1038/nature19356 http://scihub22266oqcxt.onion/10.1038/nature19356 C5295821!5295821!27626380     free     free     free Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Nature 2016 ; 537 (7621): 508-14 Nephropedia Template TP {{tp|p=27626380|t=2016. High-throughput discovery of novel developmental phenotypes |pdf=|usr=}}{{27626380}} gab.com Text High-throughput discovery of novel developmental phenotypes JO: Nature http://www.kidney.de/pget.php?&tw=1&pmid=27626380 #FOAvip Approximately one third of all mammalian genes are essential for life. Phenotypes resulting from mouse knockouts of these genes have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5000 knockout mouse lines, we have identified 410 lethal genes during the production of the first 1751 unique gene knockouts. Using a standardised phenotyping platform that incorporates high-resolution 3D imaging, we identified novel 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 identified in our screen, thus providing a novel dataset that facilitates prioritization and validation of mutations identified in clinical sequencing efforts. Twit Text FOAVip High-throughput discovery of novel developmental phenotypes ????Nature http://www.kidney.de/pget.php?&tw=1&pmid=27626380 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27626380 #FOAvip English Wikipedia <ref>{{Cite pmid|27626380}}</ref> High-throughput discovery of novel developmental phenotypes #MMPMID27626380 Dickinson ME; Flenniken AM; Ji X; Teboul L; Wong MD; White JK; Meehan TF; Weninger WJ; Westerberg H; Adissu H; Baker CN; Bower L; Brown JM; Caddle LB; Chiani F; Clary D; Cleak J; Daly MJ; Denegre JM; Doe B; Dolan ME; Edie SM; Fuchs H; Gailus-Durner V; Galli A; Gambadoro A; Gallegos J; Guo S; Horner NR; Hsu Cw; Johnson SJ; Kalaga S; Keith LC; Lanoue L; Lawson TN; Lek M; Mark M; Marschall S; Mason J; McElwee ML; Newbigging S; Nutter LM; Peterson KA; Ramirez-Solis R; Rowland DJ; Ryder E; Samocha KE; Seavitt JR; Selloum M; Szoke-Kovacs Z; Tamura M; Trainor AG; Tudose I; Wakana S; Warren J; Wendling O; West DB; Wong L; Yoshiki A; MacArthur DG; Tocchini-Valentini GP; Gao X; Flicek P; Bradley A; Skarnes WC; Justice MJ; Parkinson HE; Moore M; Wells S; Braun RE; Svenson KL; de Angelis MH; Herault Y; Mohun T; Mallon AM; Henkelman RM; Brown SD; Adams DJ; Lloyd KK; McKerlie C; Beaudet AL; Bucan M; Murray SA Nature 2016[Sep]; 537 (7621): 508-14 PMID27626380show ga Approximately one third of all mammalian genes are essential for life. Phenotypes resulting from mouse knockouts of these genes have provided tremendous insight into gene function and congenital disorders. As part of the International Mouse Phenotyping Consortium effort to generate and phenotypically characterize 5000 knockout mouse lines, we have identified 410 lethal genes during the production of the first 1751 unique gene knockouts. Using a standardised phenotyping platform that incorporates high-resolution 3D imaging, we identified novel 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 identified in our screen, thus providing a novel dataset that facilitates prioritization and validation of mutations identified in clinical sequencing efforts. äHigh-throughput discovery of novel developmental phenotypes (epmc).pdf DeepDyve Pubget Overpricing