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Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8.

Janaswami PM, Birkenmeier EH, Cook SA, Rowe LB, Bronson RT, Davisson MT


We report here a new mouse mutation, kat, that causes pleiotropic effects including facial dysmorphism, dwarfing, male sterility, anemia, and progressive polycystic kidney disease. kat (kidney anemia and testis) and a second allele, kat2J, that occurred on C57BL/ 6J were mapped to mouse chromosome (Chr) 8 using intra- and intersubspecific intercrosses. A high-resolution map for kat2J on Chr 8 was constructed using the F2 progeny from a cross between C57BL/6J-kat2J/+ and an inbred strain of Mus musculus castaneus (CAST/Ei). The kat2J mutation was localized between D8Mit129 and D8Mit128 with the gene order centromere-D8Mit100-(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 is homologous to human Chr 19p. The two mutations at this locus that have occurred at The Jackson Laboratory will be invaluable for positional cloning and subsequent functional analysis of the mutated gene.

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