Résumé
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.
Langue d'origine | English |
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Pages (de-à) | 969-976 |
Nombre de pages | 8 |
Journal | Cell |
Volume | 67 |
Numéro de publication | 5 |
DOI | |
Statut de publication | Published - nov. 29 1991 |
Publié à l'externe | Oui |
ASJC Scopus Subject Areas
- General Biochemistry,Genetics and Molecular Biology
PubMed: MeSH publication types
- Journal Article