Heterozygous Knockout Mice Partially Recapitulate Human DCM With Heterozygous Mutations.

Recent studies identified heterozygous variants in gene that encodes cardiac myosin light chain kinase (cMLCK) are related to familial dilated cardiomyopathy (DCM) for the first time. Autosomal dominant traits suggest that pathogenesis of DCM could be related to heterozygous loss-of-function variants (haploinsufficiency). We previously generated and examined homozygous knockout mice that lead to heart failure.