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

First Author  Janaswami PM Year  1997
Journal  Genomics Volume  40
Issue  1 Pages  101-7
PubMed ID  9070925 Mgi Jnum  J:37799
Mgi Id  MGI:85183 Doi  10.1006/geno.1996.4567
Citation  Janaswami PM, et al. (1997) Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8. Genomics 40(1):101-7
abstractText  We report here a new mouse mutation, kat, that causes pleiotropic effects including facial dysmorphism, dwarfing, male sterility, anemia, and progressive polycystic kidney disease. Hat (kidney anemia and testis) and a second allele, kat(2J) that occurred on C57BL/6J were mapped to mouse chromosome (Chr) 8 using intra- and intersubspecific intercrosses. 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 strain of Mus musculus castaneus (CAST/Ei). The kat(2J) 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. (C) 1997 Academic Press.
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