Analysis Tools
behavior/neurological
cellular
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• immunohistochemistry of cerebellar sections shows a punctate staining pattern for ubiquitin in the cytoplasm of granule cells and increased expression of ER-resident chaperones, indicative of increased endoplasmic reticulum stress, and this was not found in hippocampus, cortex, or striatum where cell death is not found
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muscle
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• homozygotes develop muscle wasting in their hindquarters by 1 year of age
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• the gastrocnemius muscle shows decreased fiber diameter indicative of atrophied muscle fibers at 1 year of age, the number of atrophied muscle fibers increases by 2 years of age and regenerating fibers are also found, indicative of neurogenic muscular atrophy
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nervous system
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• at 2 months of age pyknotic granule cells are present in low numbers in the inner granule cell layer
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• the inner granule cell layer of the rostral cerebellum shows depletion of more than half of the granule cells by 11 and 17 months of age
• the caudal cerebellum shows degeneration of granule cells with a later onset of cell death than that found in the rostral cerebellum and to a lesser degree with greater variability in the loss than in the rostral cerebellum
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• 11 and 17 month old homozygotes have vacuoles in the inner granule cell layer with the size and number increasing with age, although no degeneration was found of the Purkinje cells or neurons in the cortex or hippocampus
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• progressive axon degeneration occurs in the more distal peripheral motor branch of the femoral nerve between 5 and 10 months of age, but there are no signs of demyelination
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