Janaswami P M, Birkenmeier E H, Cook S A, Rowe L B, Bronson R T, Davisson M T
Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Genomics. 1997 Feb 15;40(1):101-7. doi: 10.1006/geno.1996.4567.
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.
我们在此报告一种新的小鼠突变体kat，它会引发多种效应，包括面部畸形、侏儒症、雄性不育、贫血以及进行性多囊肾病。kat（肾脏贫血和睾丸）以及在C57BL/6J上出现的第二个等位基因kat2J，通过种内和种间杂交被定位到小鼠8号染色体（Chr）上。利用C57BL/6J-kat2J/+与小家鼠栗色亚种（CAST/Ei）的近交系杂交产生的F2后代，构建了8号染色体上kat2J的高分辨率图谱。kat2J突变位于D8Mit129和D8Mit128之间，基因顺序为着丝粒-D8Mit100-（1.2±0.26厘摩）-D8Mit231-（0.17±0.09厘摩）-D8Mit129-（0.28±0.12厘摩）-D8Mit128-（0.98±0.23厘摩）-D8Mit25/D8Mit8。该片段与人类19号染色体短臂同源。在杰克逊实验室出现的这个位点的两个突变，对于突变基因的定位克隆及后续功能分析将具有极高价值。
