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

Kirk R. Thomas, Teresa S. Musci, Paul E. Neumann, Mario R. Capecchi

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224 Citations (Scopus)

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'origineEnglish
Pages (de-à)969-976
Nombre de pages8
JournalCell
Volume67
Numéro de publication5
DOI
Statut de publicationPublished - nov. 29 1991
Publié à l'externeOui

ASJC Scopus Subject Areas

  • General Biochemistry,Genetics and Molecular Biology

PubMed: MeSH publication types

  • Journal Article

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