Analysis Tools
behavior/neurological
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• mutants show a progressive impairment in the extension reflex, showing limb clasping by 12 months of age
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• mutants first show impaired running on the rotarod bar at 12 months of age and show an additional decline in performance at older ages
• mutants fall after shorter periods on the rotarod and performance does not improve in subsequent trials as in wild-type mice
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• late onset and slowly progressive motor defect recapitulating spastic paraplegia
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spasticity
(
J:197946
)
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• late onset and slowly progressive motor defect recapitulating spastic paraplegia
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nervous system
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• corticospinal tracts at 3 months of age show an increased presence of large caliber axons compared to wild-type mice
• presence of swollen axons in the corticospinal tracts at 18 months of age
• presence of swollen mitochondria with disorganized cristae in the axons of the corticospinal tracts by 3 months of age
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• alterations in the axons of the upper motoneuron
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muscle
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• gastrocnemius muscle shows a decrease in fiber size at 18, but not 3, months of age
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cellular
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• presence of swollen mitochondria with disorganized cristae in the axons of the corticospinal tracts by 3 months of age
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• swollen mitochondria of axons in the corticospinal tracts have disorganized cristae
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• mitochondria isolated from brain cortex and spinal cord at 12 and 18 months of age show decreased ATP production when incubated with pyruvate-malate, glutamate-malate, and succinate-rotenone, indicating impaired mitochondrial energy production
• mutants exhibit reduced amount of assembled respiratory chain complex III, indicating a defect in the assembly of the of chain complex III in brain cortex and spinal cord
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hereditary spastic paraplegia 13 | DOID:0110766 |
OMIM:605280 |
J:197946 | |
