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The IMPC: A Global Scientific Infrastructure for Understanding the Role of Genes in Complex Traits
Author(s) -
MuñozFuentes Violeta,
Meehan Terrence F.,
Lloyd KC Kent,
Mallon AnnMarie,
Smedley Damian,
Parkinson Helen
Publication year - 2018
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.2018.32.1_supplement.754.1
Subject(s) - biology , phenotype , informatics , computational biology , disease , genome wide association study , gene , genetics , bioinformatics , medicine , pathology , political science , single nucleotide polymorphism , genotype , law
The International Mouse Phenotyping Consortium (IMPC) is building a functional catalogue of the mammalian genome by producing and phenotyping a knockout mouse strain for every protein‐coding gene. To date, over 4,000 knockout mouse lines, many for poorly understood genes, have been characterized and made available to the research community in a coordinated effort involving more than a dozen global research centers and dedicated publicly‐available online resources. Using a standardized adult phenotyping pipeline, centers measure each mouse for more than 250 phenotypic parameters including metabolite content in blood, hearing capacity, and skeletal malformations. In addition, over 1,000 embryonic lethal mouse lines are analyzed in a specialized embryonic development pipeline that uses high‐resolution 3D imaging. All data is quality controlled and analyzed by a dedicated informatics consortium and all abnormal phenotypes automatically compared to clinical features of human disease populations to identify robust mouse models of disease and inform efforts in precision medicine. We will present our discoveries into the wide‐ranging sexual dimorphism of phenotypic traits, the latest findings in metabolism, hearing and aging and provide examples of how researchers are using IMPC resources to identify causative alleles within GWAS loci. The plethora of new genetic disease models as well as the basic and translational knowledge that has arisen from our analysis has recently earned the IMPC recognition by the G7 for being the first global research infrastructure for the life sciences. Support or Funding Information NIH Common Fund:U54H G006370, U54H G006364 This abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal .