THE MOUSE CONGENITAL POLYCYSTIC KIDNEY (CPK) LOCUS MAPS WITHIN 1.3 CMOF THE CHROMOSOME-12 MARKER D12NYU2

The mouse congenital polycystic kidney (cpk) mutation causes bilateral cystic dilatation of the renal collecting tubules and leads to rapidl y progressive renal insufficiency in affected homozygotes. The phenoty pe of the cpk/cpk mutants closely resembles that of human autosomal re cessive polycystic kidney disease (ARPKD). Previously, we have reporte d that the cpk locus maps close to D12Nyu2 on Chromosome (Chr) 12. To determine the cpk map location more precisely, we have extended our pr evious studies using additional progeny and additional markers of prox imal Chr 12. These recent studies position cpK within 1.3 cM of D12Nyu 2, closely flanked by (Odc, D12Mit10) and (Tpo, D12Mit12). Our data su pport an ordered array of seven DNA markers that will provide referenc e points for building a physical map of the Chr 12 region centered on cpk. Moreover, these data establish that cpk lies within a linkage gro up that is conserved between mouse Chr 12 and human chr 2p24-2p25. Thi s assignment to a region of homology will facilitate human linkage ana lyses to determine whether mouse cpk and human ARPKD are mutations of homologous genes. (C) 1994 Academic Press, Inc.