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Full content URL: http://doi.org/10.1038/nature19356
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| Item Type: | Article |
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| Item Status: | Live Archive |
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.
| Keywords: | embryo development, Genetics, knockout mouse, biomedical imaging, genotype phenotype correlation |
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| Subjects: | C Biological Sciences > C141 Developmental Biology C Biological Sciences > C400 Genetics |
| Divisions: | College of Science > School of Computer Science |
| ID Code: | 34926 |
| Deposited On: | 12 Apr 2019 10:25 |
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