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Phenotypes Associated with This Genotype
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phenotype observed in females
phenotype observed in males
N normal phenotype
• mice have reduced lifespans relative to wild-type; mice start to die at 11.5 weeks of age

• symptomatic mice are visibly smaller than normal littermates at 4 months
• mice stop gaining weight at 10 weeks of age, then show a rapid decline in weight after this point

• symptomatic mice can be distinguished from normal littermates at 4 months of age by poorly groomed appearance
• displayed by some mice
• displayed by some mice
• mice perform poorly on a non-accelerating rotating rod at 6 weeks of age, and do not show any subsequent improvement
• some mice exhibit spontaneous seizures

nervous system
• some mice exhibit spontaneous seizures
• gliosis is observed in granular and Purkinje cell layers of cerebellum
• TBP-71Q is relatively diffuse in neuronal nuclei in the brain
• degenerating Purkinje cells are evident in cerebellum
• loss or disruption of calbindin-positive neurites in cerebellar molecular layer is observed in mutants
• degenerating axons are evident in cerebellum; axons with reduced internal space surrounded by a distorted or thickened myelin sheath, presence of myelin ovoids, or vacuolated axons without distinguishable organelles or disintegrating myelin sheaths are indicative of more severe degeneration

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spinocerebellar ataxia type 17 DOID:0050967 OMIM:607136

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory