Ruvinsky Ilya, Chertkov Olga, Borue Xenia V, Agulnik Sergei I, Gibson-Brown Jeremy J, Lyle Stephen R, Silver Lee M
Department of Molecular Biology, Princeton University, Princeton, New Jersey 08544, USA.
Mamm Genome. 2002 Dec;13(12):675-9. doi: 10.1007/s00335-002-2191-6.
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.
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。