mortality/aging
• within 14-21 days of onset of motor problems and disease onset, mutants rapidly progress to death most likely due to inability to feed and drink
(J:77344)
• mice live an average of 10 months
(J:327648)
|
nervous system
• average age of onset of clinical abnormalities is 10.1 +/- 1.2 months
• neuropathological abnormalities develop before motor dysfunction is visible
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• astroglial reaction is seen in the midbrain, deep cerebellar nuclei, brainstem and spinal cord, indicating neurodegeneration, but not in the cortex, hippocampus, thalamus, and caudate/putamen
(J:77344)
• substantial GFAP immunoreactivity in symptomatic mice
(J:327648)
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• mutants exhibit accumulation of ubiquitin and phosphorylated Nefh (NF-H) in perikarya and neurites
• affected neurons contain fibrillar inclusions
• abnormal neuronal accumulations are not seen in mutants younger than 4 months of age
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• mutants exhibit accumulation of alpha-synuclein in neuronal cell bodies and neurites of the midbrain, cerebellum, brainstem and spinal cord
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• spinal cord exhibits astrocytic response and ubiquitin and alpha- synuclein accumulation in ventral horn motor neurons
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• mutants develop adult-onset neurodegenerative disease
• astroglial reaction is seen in the midbrain, deep cerebellar nuclei, brainstem and spinal cord, indicating neurodegeneration
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behavior/neurological
• mutants develop motor signs characterized by sustained posturing, reduced amplitude, and abundance of spontaneous activity with age
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• mutants eventually develop progressive loss of righting reflex
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• mice show a significant increase in vertical activity in the open field at 6 months of age
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• mice show a significant increase in horizontal activity in the open field at 6 months of age
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bradykinesia
(
J:77344
)
muscle
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Parkinson's disease 1 | DOID:0060367 |
OMIM:168601 |
J:77344 |