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

Cell. 1991 Nov 29;67(5):969-76. doi: 10.1016/0092-8674(91)90369-a.

Abstract

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.

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Animals
  • Animals, Newborn
  • Base Sequence
  • Brain / cytology
  • Brain / physiology
  • Cloning, Molecular
  • Embryo, Mammalian
  • Genes, Recessive*
  • Mice
  • Mice, Neurologic Mutants
  • Molecular Sequence Data
  • Mutagenesis, Insertional*
  • Oligodeoxyribonucleotides
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins
  • Proto-Oncogenes*
  • Wnt Proteins
  • Wnt1 Protein
  • Zebrafish Proteins*

Substances

  • MAS1 protein, human
  • Oligodeoxyribonucleotides
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins
  • Wnt Proteins
  • Wnt1 Protein
  • Wnt1 protein, mouse
  • Zebrafish Proteins