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. Author manuscript; available in PMC: 2017 Dec 26.
Published in final edited form as: Nat Genet. 2017 Jun 26;49(8):1231–1238. doi: 10.1038/ng.3901

Figure 1. IMPC Mutant Models of Human Disease and Gene Function.

Figure 1

Human disease models were identified by measuring the degree of phenotype similarity between IMPC null mutant mouse strains and their orthologous human disease genetic loci. Models of Mendelian Disease- of 889 potential disease models, 360 mutant strains had both phenotype overlap and an orthologous null allele to diseases with known mutations as described in OMIM and Orphanet; Novel Mendelian Disease Candidates- 135 strains had phenotype overlap and null alleles syntenic to linkage or cytogenetic regions associated with human diseases with unknown molecular mechanisms; New Functional Knowledge- of 2564 genes with a non-lethal IMPC phenotype, IMPC data provide the first functional experimental evidence for 1092 of these genes based on Gene Ontology Annotation.