Analysis Tools
behavior/neurological
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• motor learning on the rotarod improves at P30 but not over the 12 trials at P90 or P360
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• as tremor amplitude increases with age, the frequency decreases
• mice develop a severe tremor with age
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• motor performance on the rotarod declines with age
• chlorzoxazone treatment improves motor performance on the rotarod, although it does not completely rescue the phenotype to control levels
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abnormal gait
(
J:81344
)
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• this mutant has an odd waddling walk throughout life
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hearing/vestibular/ear
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• Background Sensitivity: hearing of mutant and control is abnormal by 7 months of age due to C57BLKS/J background
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nervous system
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• the patterning of the cerebellum into zones is spatially and temporally altered
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• molecular layer thickness is decreased at P15 and P30, but not at later stages, suggesting a developmental delay
• however, mice do not exhibit cerebellar neurodegeneration or Purkinje cell loss with age
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• the wiring of cerebellar sensory maps is poorly coordinated
• the adult spinocerebellar sensory map is not sharply delineated, with the topography of the afferent map less clear at P90 compared to P30
• cuneocerebellar and spinocerebellar proprioceptive pathways exhibit overlapping domains
• chlorzoxazone does not reconfirgure the miswired cerebellar circuit map
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• Purkinje cell activity is severely impaired, with Purkinje cells firing with long pauses
• Purkinje cells fire erratically on the whole, however they also exhibit higher regularity during firing
• Purkinje cell firing is already compromised in pre-weaned developing pups, with Purkinje cells firing more rapidly and with even less regularity than controls
• chlorzoxazone, a muscle relaxant, corrects several properties of Purkinje cell firing
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome | DOID:0050997 |
OMIM:PS224050 |
J:230904 | |
