behavior/neurological
• mice show deficits on the accelerating rotarod at 26 weeks of age but not at earlier time points
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• mice exhibit alterations in gait, with increases in both step angle variance and stance width
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nervous system
• cerebellar N-acetylaspartate concentrations decline with age
• progressive cerebellar degeneration
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• mice exhibit altered metabotropic glutamate receptor 1alpha localization at Purkinje cell dendritic spines
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• thinning of the cerebellar molecular layer
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• mice show a 35% decrease in the metabotropic glutamate receptor 1alpha-mediated response to parallel fiber stimulation but little change in AMPA responsiveness compared with controls
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• the metabotropic glutamate receptor 1alpha-mediated long term potentiation (LTP) is absent
• mice show reduced amplitude and LTP of long-latency patches
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
spinocerebellar ataxia type 5 | DOID:0050882 |
OMIM:600224 |
J:215593 |