Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is primarily caused by pathogenic variants in PKHD1, which encodes fibrocystin/polyductin (FPC). The Cys1cpk/cpk (cpk) mouse expresses a renal lesion that closely phenocopies ARPKD. Cys1-encoded cystin is a myristoylated protein that ...
ORGANISM(S): Mus musculus (Mouse)
