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. 2022 Oct 28;51(D1):D1038–D1045. doi: 10.1093/nar/gkac972

Table 3.

Mouse orthologues of human Mendelian disease-associated genes that entered the IMPC phenotyping pipeline according to DR17.0 and potential models for these disorders

Mouse genes associated with a Mendelian disorder by orthology that have entered the IMPC phenotyping pipeline 2574
Genes with MP (mouse knockout) and HPO (disorder) annotations available to compute a phenotypic similarity score by PhenoDigm 2223
Genes with a PhenoDigm match (automated recapitulation of disorder phenotypes) 1155
Genes associated preweaning lethality in the homozygous knockout and with reports of prenatal to childhood death in humans (manual curation, not captured by the algorithm) 166