Analysis Tools
behavior/neurological
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• by 8 months of age, mice exhibit mild ataxia with gait disturbance and muscle weakness
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• beginning at 3 months of age and increasing in frequency most mice develop myoclonic seizures induced by handling or other disturbance
• seizures last 20-50 seconds and are characterized by tonic hindlimb extension, bilateral forelimb clonus, facial movements, chewing, head nodding, body jerks, tail curling, and running or bouncing
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growth/size/body
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• males have a slightly heavier average body weight as compared to controls
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nervous system
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• beginning at 3 months of age and increasing in frequency most mice develop myoclonic seizures induced by handling or other disturbance
• seizures last 20-50 seconds and are characterized by tonic hindlimb extension, bilateral forelimb clonus, facial movements, chewing, head nodding, body jerks, tail curling, and running or bouncing
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• Purkinje cells are shrunken and dark with cytoplasmic vacuoles, however, density is similar to wild type littermates
• Purkinje cell soma contains expanded membrane compartments and swollen Golgi complexes
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• Purkinje cell apical dendrites are thickened
• dendrites and postsynaptic bulbs contain densely packed and dilated endoplasmic reticulum
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• postsynaptic density in the molecular layer is reduced by 50%
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• molecular layer of cerebellum is 15-20% thinner
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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:158494 | |
