Figure 6. Evidence of lethality in human and mouse and potential reasons for discrepancies.

Human disease genes in the catalogue with a one-to-one mouse ortholog that has undergone the IMPC primary viability assessment (DR 20.1). Discrepancies in viability between the two organisms are highlighted, together with multiple hypothesis that could explain these differences for the two most extreme scenarios: 1) pre-infant lethal phenotypes in humans and pre-weaning viability in mouse, and 2) AR disease genes with no records of premature death in humans and pre-weaning lethal phenotypes in the mouse (complete or incomplete penetrance, i.e. lethal + subviable). AD: autosomal dominant; AR: autosomal recessive; LoF: loss-of-function; GoF: gain-of-function.