Table 1. Frequency of IMPC Models that correspond to Mendelian Disease-Gene Associations in OMIM or Orphanet.

650 known rare disease-gene associations covered by OMIM and Orphanet have a phenotyped IMPC strain involving the orthologous mouse gene. The PhenoDigm automated pipeline and manual curation approaches identified matching phenotypes between mouse strains and human disease. A correspondence between the human disease and mouse model was defined when at least one of the human clinical phenotypes was recapitulated by the IMPC line. Novel models were defined when MGI contains no curated mouse line or literature asserted disease model for the gene. The manual lethality matching category corresponds to IMPC mutant strains for which homozygosity produced embryo or neonatal lethality/subviability and matched reports of human lethality/subviability in the OMIM/Orphanet summaries (see methods).

Category	Frequency
Automated IMPC Disease Model (novel only)	134/889 (15.1%)
Automated IMPC Disease Models (all)	185/889 (20.8%)
Additional Manual Lethality IMPC Disease Models (all)	175/889 (19.7%)
Total IMPC Disease Models (all)	360/889 (40.5%)