The Jackson Laboratory
The Knock-Out Mouse Project and The International Mouse Phenotyping Consortium was formed to perform characterization of a comprehensive collection of mammalian genes through the systematic perturbation and phenotypic analysis of single gene disruptions performed by the International Knock-out Mouse Consortium. To date, The Jackson Laboratory has 444 fully characterized mutant strains examined with a wide range of phenotypic assays. Genes were prioritized by the research community, often based on information of phenotypic importance in one or more domain areas. However, the breadth of the phenotyping platform provides many additional new annotations even for these known genes. Each new phenotypic annotation generated by IMPC analysis is reported to Mouse Genome Informatics, and these annotations can be compared to existing information on known phenotypic alleles. A preliminary analysis of these annotations reveals that mutant strains generated and phenotyped by The Jackson Laboratory, 1478 phenotype annotations (or approximately 55% of the 2,674 total JAX strain phenotype annotations) for 243 unique genes were novel. Of the remaining 199 genes, 4,804 annotations were derived from MGI literature and submitted data curation, and 1,196 mostly novel phenotype annotations resulted from The Jackson Laboratory phenotyping pipeline. Additional analysis including targeted curation of genes and phenotypes characterized by the IMPC, and evaluation of the structural relations among annotations across phenotypic alleles will enable more precise quantitation of the knowledge gained by this consortium.
Support:
NIH Grant# U54 HG006332.