The majority of human ADPKD patients present a heterozygous mutation in one of the PKD genes and the disease progresses over decades before renal function is impaired to a point that renal replacement therapy is necessary; while in murine models, heterozygous Pkd mutations—which better recapitulate the human disease—cause a mild and very variable disease phenotype. The gene discussed is PRKD1; the disease is autosomal dominant polycystic kidney disease.