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October 27, 2011 - Prtenjaca et. al

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Western University
Biology 3594A
Kathleen Hill

Mutation Frequency is not elevated in the cerebellum of harlequinBig Bluemice but Class II deletions occur preferentially in young harlequin cerebellumPrtenJaca et alHarlequin Mouse ModelHarlequin hq XhqY mouse model is a model of mitochondrial dysfunction leading to elevated oxidative stress and neurodegeneration Contains a proviral insertion in the first intron of the Xlinked apoptosis inducing factor AIF gene In normal conditions this is located in the inner and outer mitochondrial membranes but induces apoptosis when fragmented to the nucleus AIF deficiency leads to increased oxidative stess by ROS and decreased ATP productionHarlequin mice are a good model for human agingPhenotype consists of Dont have any fur hqY hqhq An HqX mouse with only one copy of the bad gene ends up losing half of its hairHas retinal degeneration then cerebellar degeneration then rod and cone loss and functionAt the age of a teenager it looks like a really old mouse E1E2between these two an insertional mutagenesis has been inserted spontaneousIt is a hypomorph it is a retrotranspositionThe hypothesis is that this is because of an increase in ROS PLAP AssayHq carri
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