TY - JOUR
T1 - Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8
AU - Janaswami, Poornima M.
AU - Birkenmeier, Edward H.
AU - Cook, Susan A.
AU - Rowe, Lucy B.
AU - Bronson, Roderick T.
AU - Davisson, Muriel T.
N1 - Funding Information:
The authors thank Aletha Torrey, Brenda Sprague, Elaine Hall, and Pat Ward-Bailey for invaluable technical assistance and Drs. Jane Barker and Ken Johnson for critical review of the manuscript. This work was supported by National Institutes of Health Grants P40 RR01183 (M.T.D., S.A.C.), GM46697 (S.A.C.), DK49634 (E.H.B.), and CIBT (E.H.B.) and by the PKR foundation (E.H.B.). The Jackson Laboratory is fully accredited by the American Association for the Accreditation of Laboratory Animal Care.
PY - 1997/2/15
Y1 - 1997/2/15
N2 - 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, 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.
AB - 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, 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.
UR - http://www.scopus.com/inward/record.url?scp=0031568869&partnerID=8YFLogxK
U2 - 10.1006/geno.1996.4567
DO - 10.1006/geno.1996.4567
M3 - Article
C2 - 9070925
AN - SCOPUS:0031568869
SN - 0888-7543
VL - 40
SP - 101
EP - 107
JO - Genomics
JF - Genomics
IS - 1
ER -