Biallelic disruption ofPKDCCis associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features

Background During mouse embryonic development the protein kinase domain containing, cytoplasmic ( Pkdcc ) gene, also known as Vlk, is expressed in several tissues including the ventral midbrain, with particularly strong expression in branchial arches and limb buds. Homozygous Pkdcc knockout mice have dysmorphic features and shortened long bones as the most obvious morphological abnormalities. The human PKDCC gene has currently not been...