behavior/neurological
• affected mice show ataxia characterized by a wobbly gait and tendency to fall over
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• in a still-rod test, wild-type mice remain on the rod for 2 minutes, but mutants fall within 7 seconds
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• when placed in a glass beaker, 2 of 6 mutants are unable to rear, and when the remaining 4 rear, their haunches touch the surface of the beaker due to the abnormally large distance between the hindpaws during rearing (53.75 mm versus 25.71 mm in wild type
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nervous system
• dendrites showed abnormal enlargements and megadendrites with vacuolization in the cytoplasm are frequently observed; dendritic arbors are reduced in density and focal axonal swellings are frequently observed often as axons cross the granular layer
(J:67170)
• dendrites of Purkinje cells in mutants have larger cross-sectional areas than wild-type
(J:68106)
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• mutant mice display a loss of Purkinje cells throughout the vermis
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homeostasis/metabolism
• mutants have significantly lower concentrations of glutamate in the cerebellum
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