Robinson Kellie O, Petersen Angela M, Morrison Stephanie N, Elso Colleen M, Stubbs Lisa
Genome Biology Division, Biology and Biotechnology Research Program, Lawrence Livermore National Laboratory, L-441, 7000 East Avenue, Livermore, California, 94550, USA.
Mamm Genome. 2005 Jan;16(1):32-40. doi: 10.1007/s00335-004-2423-z.
We describe two new mutations, 153Gso and 154Gso, associated with reciprocal translocations with a common breakpoint in mouse chromosome 6B3 (Mmu6B3). The translocations arose independently in offspring of male mice treated with chlorambucil and glycidamide, respectively. Homozygotes of both mutant stocks display a characteristic gait ataxia with 'foot-patting' behavior; despite their ataxia the mutant animals are healthy, long-lived, and breed normally. Breeding experiments confirmed that 153Gso and 154Gso mutations are allelic, and both fail to complement a known mutation hotfoot (ho), a Mmu6 mutation involving the glutamate receptor gene, Grid2, that is associated with a virtually identical phenotype. Our studies demonstrate that the 153Gso and 154Gso mutations disrupt the Grid2 gene at sites located more than 100 kb apart in intron 6 and intron 4 of the gene, respectively. The occurrence of two independent translocations from a relatively small colony within the same locus supports data suggesting the hypermutability of the Grid2 locus and suggest that the gene's large size make it an especially likely target for mutations involving genetic rearrangement.
我们描述了两个新的突变,153Gso和154Gso,它们与小鼠6B3染色体(Mmu6B3)上一个共同断点的相互易位有关。这些易位分别独立出现在用苯丁酸氮芥和缩水甘油酰胺处理过的雄性小鼠的后代中。两种突变品系的纯合子均表现出具有“拍脚”行为的特征性步态共济失调;尽管存在共济失调,但突变动物健康、长寿且繁殖正常。育种实验证实153Gso和154Gso突变是等位基因,并且二者均不能互补已知的突变hotfoot(ho),后者是一种涉及谷氨酸受体基因Grid2的Mmu6突变,与几乎相同的表型相关。我们的研究表明,153Gso和154Gso突变分别在该基因第6内含子和第4内含子中相距超过100 kb的位点破坏了Grid2基因。来自同一基因座内一个相对较小群体的两个独立易位的出现支持了表明Grid2基因座具有高突变性的数据,并表明该基因的大尺寸使其特别容易成为涉及基因重排的突变靶点。