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Publication : Swaying is a mutant allele of the proto-oncogene Wnt-1.

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.
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