A new ENU-induced allele of mouse quaking causes severe CNS dysmyelination

A new ENU-induced allele of mouse quaking causes severe CNS dysmyelination The mutant allelic series of the mouse quaking gene consists of the spontaneous quaking viable (qk v) allele, which is homozygous viable with a dysmyelination phenotype, and four ENU-induced alleles (qk kt1, qk k2, qk kt3/4, and qk l-1), which are homozygous embryonic lethal. Here we report the isolation of qk e5, the first ENU-induced viable allele of quaking. Unlike qk v/qk v, qk e5/qk e5 animals have early-onset seizures, severe ataxia, and a dramatically reduced lifespan. Ultrastructural analysis of qk e5/qk e5 brains reveals severe dysmyelination when compared with both wild-type and qk v/qk v brains. In addition, Calbindin detection in young adult qk e5/qk e5 mice reveals Purkinje cell axonal swellings indicative of neurodegeneration , which is not seen in young adult qk v/qk v mice. Although the molecular defect in the qk e5 allele is not evident by sequencing, protein expression studies show that qk e5/qk e5 postnatal oligodendrocytes lack the QKI-6 and QKI-7 isoforms and have reduced QKI-5 levels. The oligodendrocyte developmental markers PDGFαR, NG2, O4, CNP, and MBP are also present in the qk e5/qk e5 postnatal brain although CNP and MBP levels are considerably reduced. Because the qk v allele is a large deletion that affects the expression of three genes, the new neurologic qk e5 allele is an important addition to this allelic series. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Mammalian Genome Springer Journals

A new ENU-induced allele of mouse quaking causes severe CNS dysmyelination

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Copyright © 2005 by Springer Science+Business Media, Inc.
Life Sciences; Anatomy; Cell Biology; Zoology
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