Analysis Tools
behavior/neurological
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• by 12 weeks of age, but not at 6 weeks of age, mutants start to show signs of ataxia by home cage behavior
• by 32 weeks of age, mutants exhibit overt ataxia
• treatment with doxycycline at 12 or at 32 weeks of age to turn off expression of the gene results in improvement in home cage behavior
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• 6 week old mutants exhibit a moderate deficiency on the accelerating rotarod which gets worse at 12 weeks of age and by 32 weeks of age, mutants are unable to stay on the accelerating rotarod
• treatment with doxycycline at 6, 12 or at 32 weeks of age to turn off expression of the gene results in a partial improvement in rotarod performance, but only after an extended period of dox treatment
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nervous system
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• 6 week old mutants exhibit a mild Purkinje cell atrophy that includes cytoplasmic vacuoles, some dendritic pruning, heterotypic Purkinje and nuclear inclusions
• by 12 and 32 weeks of age, Purkinje cell atrophy is very extensive
• treatment with doxycycline at 6, 12 or at 32 weeks of age to turn off expression of the gene results in improvement of Purkinje cell pathology
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• at 12 weeks of age, mutants exhibit a decrease in dendritic arborization and distribution of spines along the remaining dendrites
• treatment with doxycycline at 12 or at 32 weeks of age to turn off expression of the gene results in increased arborization of the Purkinje cell dendritic tree
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| spinocerebellar ataxia type 1 | DOID:0050954 |
OMIM:164400 |
J:95453 | |
