First Author | Thomas KR | Year | 1991 |
Journal | Cell | Volume | 67 |
Issue | 5 | Pages | 969-76 |
PubMed ID | 1835670 | Mgi Jnum | J:2964 |
Mgi Id | MGI:51480 | Doi | 10.1016/0092-8674(91)90369-a |
Citation | Thomas KR, et al. (1991) Swaying is a mutant allele of the proto-oncogene Wnt-1. Cell 67(5):969-76 |
abstractText | 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. |