title: Swaying is a mutant allele of the proto-oncogene Wnt-1.
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.
authors.affiliation: Howard Hughes Medical Institute, Eccles Institute of Human Genetics, University of Utah, Salt Lake City 84112.
authors.forename: K R
authors.initials: KR
authors.lastname: Thomas
authors.forename: T S
authors.initials: TS
authors.lastname: Musci
authors.forename: P E
authors.initials: PE
authors.lastname: Neumann
authors.forename: M R
authors.initials: MR
authors.lastname: Capecchi
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D000831:Animals, Newborn; D001483:Base Sequence; D001921:Brain / Q000166:cytology / Q000502:physiology; D003001:Cloning, Molecular; D004622:Embryo, Mammalian; D005808:Genes, Recessive; D051379:Mice; D008818:Mice, Neurologic Mutants; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009838:Oligodeoxyribonucleotides; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D011519:Proto-Oncogenes; D051153:Wnt Proteins; D051155:Wnt1 Protein; D029961:Zebrafish Proteins
chemical_list: C000715470:MAS1 protein, human; D009838:Oligodeoxyribonucleotides; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051153:Wnt Proteins; D051155:Wnt1 Protein; C495246:Wnt1 protein, mouse; D029961:Zebrafish Proteins