title: Jimpy-4J mouse has a missense mutation in exon 2 of the Plp gene.
abstract: We previously showed that the jimpy-4J mouse mutation is located on the X chromosome, in or closely linked to the proteolipid protein (Plp) gene. The phenotype is characterized by the most severe hypomyelination of any of the naturally occurring myelin mutant mice, sharp reduction in oligodendrocyte number, and virtual absence of PLP protein. Affected animals show tremor, seizures, and die at about 24 postnatal days. We now report that sequencing of Plp genomic and cDNAs identifies a single nucleotide substitution in exon 2 that predicts an Ala38Ser substitutions in a hydrophilic region of PLP/DM20 protein close to a transmembrane domain. This mutation occurs in a very different region of the mouse Plp gene than that jimpy-msd mutations, yet all three produce qualitatively similar phenotypes.
authors.affiliation: University of Massachusetts Medical School, Department of Cell Biology, Worcester 01655, USA.
authors.forename: G B
authors.initials: GB
authors.lastname: Pearsall
authors.forename: N L
authors.initials: NL
authors.lastname: Nadon
authors.forename: M K
authors.initials: MK
authors.lastname: Wolf
authors.forename: S
authors.initials: S
authors.lastname: Billings-Gagliardi
mesh_terms: D000818:Animals; D015152:Blotting, Northern; D004247:DNA / Q000096:biosynthesis / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers; D016373:DNA, Antisense; D003711:Demyelinating Diseases / Q000235:genetics / Q000378:metabolism; D005091:Exons / Q000502:physiology*; D016678:Genome; D051379:Mice; D008816:Mice, Jimpy; D009154:Mutation / Q000502:physiology*; D018991:Myelin Proteolipid Protein / Q000096:biosynthesis / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D016373:DNA, Antisense; D018991:Myelin Proteolipid Protein; D004247:DNA