PgmNr M5108: Informing the Genetic Basis of Disease: Informatics for The International Mouse Phenotyping Consortium.

Authors:
T. Meehan 1 ; A. Mallon 2 ; D. Smedley 3 ; H. Parkinson 1 ; on behalf of the MPI2 consortium


Institutes
1) EMBL-EBI, Hinxton, Cambridge, UK; 2) MRC Mammalian Genetics Unit, MRC Harwell, Harwell, UK; 3) Queen Mary University London, London, UK.


Abstract:

Attempts at correlating phenotypic aspects of disease with causal genetic variants are confounded by the lack of knowledge for most genes. The International Mouse Phenotyping Consortium (IMPC) is building the first truly comprehensive functional catalog of a mammalian genome by producing and characterizing a knockout mouse strain for every protein-coding gene. Data from a standardized, broad-based phenotyping pipeline are collected and archived for both male and female mice by the IMPC-Data Coordinating Center. Dedicated ‘data wranglers’ coordinate with each phenotyping center to ensure proper transfer and quality control of data. A sophisticated statistical analysis pipeline applies the best statistical test to the data and identifies knockout strains with significant changes while accounting for bias from confounding effects. In addition, hundreds of new disease models are computationally identified by analysis of phenotype overlap and automated 3-D embryo dysmorphology detection using software developed or adapted by the IMPC. With phenotype data now available for over 2600 genes at mousephenotype.org, this talk will focus on the new insights the IMPC is providing into development, fertility, disease and the wide-prevalence of sexual dimorphism.