Thomas K R, Musci T S, Neumann P E, Capecchi M R
Howard Hughes Medical Institute, Eccles Institute of Human Genetics, University of Utah, Salt Lake City 84112.
Cell. 1991 Nov 29;67(5):969-76. doi: 10.1016/0092-8674(91)90369-a.
Mice homozygous for the recessive mutation swaying (sw) are characterized by ataxia and hypertonia, attributed to the malformation of anterior regions of the cerebellum. We show that sw is a deletion of a single base pair from the proto-oncogene Wnt-1. The deletion is predicted to cause premature termination of translation, eliminating the carboxy-terminal half of the Wnt-1 protein. Histological examination shows that sw is phenotypically identical to a previously described wnt-1 mutation introduced into mice by gene targeting. Although both mutations in Wnt-1 disrupt primarily the development of the anterior cerebellum, they also exhibit a variability in expressivity such that rostrally adjacent structures in the midbrain and caudally adjacent structures in the posterior cerebellum can also be affected.
隐性突变摇摆（sw）的纯合子小鼠表现为共济失调和张力亢进，这归因于小脑前部区域的畸形。我们发现sw是原癌基因Wnt-1中一个单碱基对的缺失。该缺失预计会导致翻译提前终止，从而消除Wnt-1蛋白的羧基末端一半。组织学检查表明，sw在表型上与先前通过基因靶向引入小鼠的wnt-1突变相同。尽管Wnt-1中的这两种突变主要破坏前小脑的发育，但它们在表达上也表现出变异性，使得中脑前端相邻结构和后小脑后端相邻结构也可能受到影响。
