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  • Title: Jimpy-4J mouse has a missense mutation in exon 2 of the Plp gene.
    Author: Pearsall GB, Nadon NL, Wolf MK, Billings-Gagliardi S.
    Journal: Dev Neurosci; 1997; 19(4):337-41. PubMed ID: 9215879.
    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.
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