Article
Genetic background determines phenotypic severity of the Plp rumpshaker mutation.
Journal of neuroscience research - 1 Apr 2003
Al-Saktawi K, McLaughlin M, Klugmann M, Schneider A, Barrie J A, McCulloch M C, Montague P, Kirkham D, Nave K-A, Griffiths I R
Abstract excerpt
The rumpshaker mutation of the proteolipid protein (Plp) gene causes dysmyelination in man and mouse. We show that the phenotype in the mouse depends critically on the genetic background in which the mutation is expressed. On the C3H background there is normal longevity whereas changing to a C57BL/6 strain results in seizures and death at around postnatal day 30. The more severe phenotype is associated with less...
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