Saturation germ line mutagenesis of the murine t region including a lethal allele at the quaking locus.
Saturation germ line mutagenesis of the murine t region including a lethal allele at the quaking locus.
复制标题
小鼠 t 区的饱和种系诱变，包括颤动位点的致死等位基因。
DOI：
10.1073/pnas.85.1.180
复制
发表时间：
1988
影响因子：
11.1
通讯作者：
Dove,WF
中科院分区：
文献类型：
--
作者：
Shedlovsky,A;King,TR;Dove,WF
小鼠17号染色体的近端区域包含许多影响胚胎发育、生殖细胞分化和免疫系统的基因。虽然自然变异的研究，包括t单倍型，已经产生了一些关于这些基因的功能的信息，自发变异往往表现出多种遗传效应，一般不进行近交系背景。为了清楚地将表型与单个基因的作用联系起来，需要单独改变基因的突变体。因此，我们使用了一种高效的点诱变剂，N-乙基-N-亚硝基脲，结合经典的育种计划，以诱导和识别隐性致死突变的t区。350诱变配子检查，至少有10个独立的隐性胚胎致死突变已被确定，另外两个围产期致死。一个自发的短尾突变，TWIS，出现在遗传背景，允许高分辨率映射的诱导隐性突变对克隆的DNA序列从t区。一个致命的突变是震动基因座上的等位基因。震动的多个等位基因和高分辨率映射的可行性允许调查该基因座在哺乳动物发育中的多效性作用。
The proximal region of mouse chromosome 17 contains many genes affecting embryonic development, germ cell differentiation, and the immune system. Although the study of natural variation, including t haplotypes, has yielded some information about the function of these genes, spontaneous variants often exhibit manifold genetic effects and are generally not carried on inbred backgrounds. To clearly connect phenotypes with the actions of individual genes, mutants in which genes are altered singly are needed. Therefore, we used a highly efficient point mutagen, N-ethyl-N-nitrosourea, in combination with classical breeding schemes to induce and identify recessive lethal mutations in the t region. Of 350 mutagenized gametes examined, at least 10 independent recessive embryonic lethal mutations have been identified; an additional two are perinatal lethals. A spontaneous brachyury mutation, TWis, arose on a genetic background that permits high-resolution mapping of the induced recessive mutations against cloned DNA sequences from the t region. One lethal mutation is an allele at the quaking locus. The multiple alleles of quaking and the feasibility of high-resolution mapping permit investigation of the pleiotropic action of this locus in mammalian development.