Pkd1 R3277C Knock-In Mouse Model

Technology #2012-144

The knock-in mouse model mimics an incompletely penetrant genetic mutation found in patients with atypical autosomal dominant polycystic kidney disease (ADPKD). The model was established to investigate the pathogenic mechanism of this particular mutation (PKD1 R3277C). As in patients, mice carrying the mutation together with a PKD1 truncating change develop severe, early onset disease, while mice homozygous for the mutation together with a PKD1 truncating change develop severe, early onset disease, while mice homozygous for the mutation have slowly progressive ADPKD. The model exactly mimics anatomical and pysiological features of human ADPKD making it perfect for testing of novel and existing therapeutics as well as investigations of disease processes leading to cyst development. Additionally, the model allows investigation of the biochemical mechanism by which the mutation causes disease, highlighting a reduction in successful protein folding.