IDENTIFICATION AND GENETIC-MAPPING OF A NEW POLYCYSTIC KIDNEY-DISEASEON MOUSE CHROMOSOME-8

We report here a new mouse mutation, kat, that causes pleiotropic effe cts including facial dysmorphism, dwarfing, male sterility, anemia, an d progressive polycystic kidney disease. hat (kidney anemia and testis ) and a second allele, kat(2J) that occurred on C57BL/6J were mapped t o mouse chromosome (Chr) 8 using intra- and intersubspecific intercros ses. A high-resolution map for kat(2J) on Chr 8 was constructed using the F2 progeny from a cross between C57BL/6J-kat(2J)/+ and an inbred s train of Mus musculus castaneus (CAST/Ei). The kat(2J) mutation was lo calized between D8Mit129 and D8Mit128 with the gene order centromere-D 8Mit100-(1.2 +/- 0.26 cM)-D8Mit231-(0.17 +/- 0.09 cM)-D8Mit129-(0.28 /- 0.12 cM)-D8Mit128-(0.98 +/- 0.23 cM)-D8Mit25/D8Mit8. This segment i s homologous to human Chr 19p. The two mutations at this locus that ha ve occurred at The Jackson Laboratory will be invaluable for positiona l cloning and subsequent functional analysis of the mutated gene. (C) 1997 Academic Press.