TitleNew models for human disease from the International Mouse Phenotyping Consortium.
Publication TypeJournal Article
Year of Publication2019
AuthorsCacheiro P, Haendel MA, Smedley D
Corporate AuthorsInternational Mouse Phenotyping Consortium and the Monarch Initiative
JournalMamm Genome
Date Published2019 May 24

The International Mouse Phenotyping Consortium (IMPC) continues to expand the catalogue of mammalian gene function by conducting genome and phenome-wide phenotyping on knockout mouse lines. The extensive and standardized phenotype screens allow the identification of new potential models for human disease through cross-species comparison by computing the similarity between the phenotypes observed in the mutant mice and the human phenotypes associated to their orthologous loci in Mendelian disease. Here, we present an update on the novel disease models available from the most recent data release (DR10.0), with 5861 mouse genes fully or partially phenotyped and a total number of 69,982 phenotype calls reported. With approximately one-third of human Mendelian genes with orthologous null mouse phenotypes described, the range of available models relevant for human diseases keeps increasing. Among the breadth of new data, we identify previously uncharacterized disease genes in the mouse and additional phenotypes for genes with existing mutant lines mimicking the associated disorder. The automated and unbiased discovery of relevant models for all types of rare diseases implemented by the IMPC constitutes a powerful tool for human genetics and precision medicine.

Alternate JournalMamm. Genome
PubMed ID31127358
Grant List5-UM1-HG006370 / / National Institutes of Health /
1R24OD011883 / / National Institutes of Health /