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小鼠突变的遗传学分析 足部和尾巴异常以及被毛粗糙,会导致发育异常和脱发。

Genetics analysis of mouse mutations Abnormal feet and tail and rough coat, which cause developmental abnormalities and alopecia.

作者信息

Ruvinsky Ilya, Chertkov Olga, Borue Xenia V, Agulnik Sergei I, Gibson-Brown Jeremy J, Lyle Stephen R, Silver Lee M

机构信息

Department of Molecular Biology, Princeton University, Princeton, New Jersey 08544, USA.

出版信息

Mamm Genome. 2002 Dec;13(12):675-9. doi: 10.1007/s00335-002-2191-6.

Abstract

Mutations in the mouse Brachyury (T) gene are characterized by a dominant reduction of tail length and recessive lethality. Two quantitative trait loci, Brachyury-modifier 1 and 2 (Brm1 and Brm2) are defined by alleles that enhance the short-tail Brachyury phenotype. Here we report on a genetic analysis of a visible dominant mutation Abnormal feet and tail (Aft) located in the vicinity of Brm1. Affected animals display kinky tails and syndactyly in the hindlimbs, both likely resulting from a defect in apoptosis. We observed an unusual genetic incompatibility between Aft and certain genetic backgrounds. We show that Aft and T are likely to interact genetically, since some double heterozygotes are tailless. In addition to the tail and hindlimb phenotypes, Aft-bearing mutants display characteristic late-onset skin lesions. We therefore tested for allelism between Aft and a closely linked recessive mutation rough coat (rc) and found that these two mutations are likely nonallelic. Our results provide a valuable resource for the study of mammalian skin development and contribute to the genetic analysis of Brachyury function.

摘要

小鼠短尾(T)基因的突变特征为显性的尾巴长度缩短和隐性致死性。两个数量性状基因座,即短尾修饰基因1和2(Brm1和Brm2),由增强短尾短尾表型的等位基因定义。在此,我们报告了对位于Brm1附近的一个可见显性突变异常足尾(Aft)的遗传分析。受影响的动物表现出扭结的尾巴和后肢并趾,这两者可能都是由细胞凋亡缺陷导致的。我们观察到Aft与某些遗传背景之间存在异常的遗传不相容性。我们表明Aft和T可能在遗传上相互作用,因为一些双杂合子是无尾的。除了尾巴和后肢表型外,携带Aft的突变体还表现出特征性的迟发性皮肤病变。因此,我们测试了Aft与一个紧密连锁的隐性突变粗糙被毛(rc)之间的等位性,发现这两个突变可能是非等位的。我们的结果为研究哺乳动物皮肤发育提供了宝贵的资源,并有助于对短尾功能进行遗传分析。

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