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Lookup NU author(s): Dr Demetrius Vouyiouklis
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Hindshaker (hsh) is a novel, spontaneous, autosomal recessive mouse mutation displaying a myelin deficit, predominantly in the spinal cord. It is characterized by developmentally dependent hypomyelination, first evident at postnatal day (P) 10, followed by progressive but incomplete recovery by P42. Hypomyelination is associated with a decreased number of mature oligodendrocytes, which fail to form complete myelin sheaths. Heterozygotes are phenotypically normal, and the hsh mutation shows considerable variation in penetrance and expression depending on genetic background, indicating the influence of modifying loci. Here, we followed an outcross/backcross breeding strategy in conjunction with genotyping for microsatellites and a novel marker for the gene S100a4. We describe the genomic mapping of the hsh mutation to within a 1.2-cM region near the centromere of mouse chromosome 3. We found that hsh is flanked between D3Mit187 proximally and S100a4 distally. The area containing hsh is gene-rich, with a high proportion of the genes specific to nervous tissue. Identification of the hsh mutation will aid our understanding of processes important in regional control of oligodendrocyte development and myelination.
Author(s): Vouyiouklis DA; Anderson TJ; King HE; Kirkham D; Karim SA; Johnson KJ; Griffiths IR
Publication type: Article
Publication status: Published
ISSN (print): 0888-7543
ISSN (electronic): 1089-8646
Publisher: Academic Press
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