Analysis Tools
nervous system
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• progressive Purkinje cell loss by 90 days of age, restricted to the anterior medial part of the cerebellum
• Purkinje cell loss extends to the cerebellar hemispheres, the simple lobule and the medial part of the ansiform crus 1 lobule without affecting the parafloccular lobes
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• axons of Purkinje cells have numerous swellings called torpedoes, characteristic of axon degeneration; swellings are seen as early as 30 days of age and the number of axonal swellings increase with time
• swellings are more prominent in axons arising from the anterior versus posterior cerebellar lobules
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• motor neurons of dissociated spinal cord cultures show a delay in maturation of about 2 weeks
• spinal cord motor neurons show neurofilament accumulation
• mitochondrial motility is reduced in axons of motor neurons, with only 8% of mitochondria undergoing unidirectional movement compared with 32% in axons of control cultures; percentage of motile mitochondria in axons decreases even further with increased passage of cells
• mitochondrial length is similar in motor neuron cultures at division 21 but is drastically increased at division 35
• spinal motor neurons show a decrease in the number of large (7-10 um diameter) myelinated axons and an increase in the relative number of axons of diameter of 3-4 um
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• numbers of spinal motor neurons at L5 level are reduced 25% at 2 years of age
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• slight increase in neurofilaments in proximal dendrites at P14
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• corticospinal axons show signs of degeneration at 2 years of age
• however, the number of corticospinal axons does not change
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behavior/neurological
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• 365 day old mice exhibit hindlimb clasping when held by the tail
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• mutants take more time to cross the balance beam and display a greater number of foot slips as early as 40 days of age
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• mutants take more time to cross the balance beam and display a greater number of foot slips as early as 40 days of age
• mice show impaired performance on the rotorod test, with the most significant differences at 90 days of age
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• females show a progressive decrease in muscle strength in the inverted grid test starting at 120 days of age
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• mice show abnormal gait characterized by the lateral spreading of their rear paws between 7 and 10 months of age with gait abnormalities becoming more pronounced by 15 months
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muscle
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• gastrocnemius muscle shows some angular atrophic muscle fibers and hypertrophic fibers
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• calf muscle exhibits loss in weight of gastrocnemius muscle and to a smaller degree, the soleus at 2 years of age
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• calf muscle exhibits loss in weight of gastrocnemius muscle and to a smaller degree, the soleus at 2 years of age
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• gastrocnemius muscle shows some angular atrophic muscle fibers and hypertrophic fibers
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limbs/digits/tail
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• gastrocnemius muscle shows some angular atrophic muscle fibers and hypertrophic fibers
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• calf muscle exhibits loss in weight of gastrocnemius muscle and to a smaller degree, the soleus at 2 years of age
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• calf muscle exhibits loss in weight of gastrocnemius muscle and to a smaller degree, the soleus at 2 years of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Charlevoix-Saguenay spastic ataxia | DOID:0050946 |
OMIM:270550 |
J:217753 | |
