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N-乙基-N-亚硝基脲诱导的产前致死突变在小鼠7号染色体的胚胎外胚层发育(eed)基因座内定义了至少两个互补群。

N-ethyl-N-nitrosourea-induced prenatally lethal mutations define at least two complementation groups within the embryonic ectoderm development (eed) locus in mouse chromosome 7.

作者信息

Rinchik E M, Carpenter D A

机构信息

Biology Division, Oak Ridge National Laboratory, Tennessee 37831-8077.

出版信息

Mamm Genome. 1993;4(7):349-53. doi: 10.1007/BF00360583.

Abstract

Two loci [l(7)5Rn and l(7)6Rn] defined by N-ethyl-N-nitrosourea (ENU)-induced, prenatally lethal mutations were mapped by means of trans complementation crosses to mice carrying lethal deletions of the albino (c) locus in Chromosome (Chr) 7. Both loci were found to map to the subregion of the Mod-2-sh-1 interval that contains the eed (embryonic ectoderm development) locus, eed has been defined by the inability of embryos homozygous for certain c deletions to develop beyond the early stages of gastrulation. Evidence for at least two loci necessary for normal prenatal development, rather than one locus, that map within the eed interval came from the observation that two prenatally lethal mutations, 3354SB [l(7)5Rn3354SB] and 4234SB [l(7)6Rn4234SB], could complement each other in trans, but could not each be complemented individually by c deletions known to include the eed locus. A somewhat leaky allele of l(7)5Rn [l(7)5Rn1989SB] was also recovered, in which hemizygotes are often stillborn and homozygotes exhibit variable fitness and survival. The mapping of the loci defined by these mutations is likely to be useful for genetic, molecular, and phenotypic characterization of the eed region, and mutations at either locus (or both loci) may contribute to the eed phenotype.

摘要

通过N-乙基-N-亚硝基脲(ENU)诱导产生的、导致产前致死的两个基因座[l(7)5Rn和l(7)6Rn],借助反式互补杂交定位到了7号染色体上携带白化病(c)基因座致死性缺失的小鼠。发现这两个基因座均定位到包含eed(胚胎外胚层发育)基因座的Mod-2-sh-1区间的亚区域,eed是由某些c缺失的纯合胚胎无法发育到原肠胚形成早期所定义的。在eed区间内存在至少两个而非一个正常产前发育所必需的基因座的证据,来自于这样的观察:两个产前致死突变,3354SB [l(7)5Rn3354SB]和4234SB [l(7)6Rn4234SB],可以在反式中相互互补,但不能被已知包含eed基因座的c缺失单独互补。还获得了l(7)5Rn的一个有点渗漏的等位基因[l(7)5Rn1989SB],其中半合子通常死产,纯合子表现出可变的适应性和存活率。这些突变所定义的基因座的定位可能有助于eed区域的遗传、分子和表型特征分析,并且任一基因座(或两个基因座)的突变可能导致eed表型。

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