4.8 Article

The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

Journal

NUCLEIC ACIDS RESEARCH
Volume 51, Issue D1, Pages D1038-D1045

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/nar/gkac972

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The International Mouse Phenotyping Consortium (IMPC) website provides a curated and analyzed platform for knockout mouse phenotyping data, which is valuable for molecular diagnosis and gene function research in rare diseases. The data and materials have been widely used in over 4,600 publications, indicating their significance.
The International Mouse Phenotyping Consortium (IMPC; https://www.mousephenotype.org/) web portal makes available curated, integrated and analysed knockout mouse phenotyping data generated by the IMPC project consisting of 85M data points and over 95,000 statistically significant phenotype hits mapped to human diseases. The IMPC portal delivers a substantial reference dataset that supports the enrichment of various domain-specific projects and databases, as well as the wider research and clinical community, where the IMPC genotype-phenotype knowledge contributes to the molecular diagnosis of patients affected by rare disorders. Data from 9,000 mouse lines and 750 000 images provides vital resources enabling the interpretation of the ignorome, and advancing our knowledge on mammalian gene function and the mechanisms underlying phenotypes associated with human diseases. The resource is widely integrated and the lines have been used in over 4,600 publications indicating the value of the data and the materials.

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