Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.
Document Type
Article
Publication Date
8-2017
JAX Source
Nat Genet 2017 Aug; 49(8):1231-1238
Volume
49
Issue
8
First Page
1231
Last Page
1238
ISSN
1546-1718
PMID
28650483
DOI
https://doi.org/10.1038/ng.3901
Grant
OD011185, HG006332
Abstract
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests. All mice will be readily available to the biomedical community. Analyzing the first 3,328 genes identified models for 360 diseases, including the first models, to our knowledge, for type C Bernard-Soulier, Bardet-Biedl-5 and Gordon Holmes syndromes. 90% of our phenotype annotations were novel, providing functional evidence for 1,092 genes and candidates in genetically uncharacterized diseases including arrhythmogenic right ventricular dysplasia 3. Finally, we describe our role in variant functional validation with The 100,000 Genomes Project and others. Nat Genet 2017 Aug; 49(8):1231-1238.
Recommended Citation
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Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. Nat Genet 2017 Aug; 49(8):1231-1238