Mouse Genome Informatics
phenotype observed in females
phenotype observed in males
N normal phenotype
• mice have reduced lifespans relative to wild-type; mice start to die at 21 weeks of age

• symptomatic mice are visibly smaller than normal littermates at 6.5 months

• symptomatic mice can be distinguished from normal littermates at 6.5 months of age by poorly groomed appearance
• displayed by some mice
• displayed by some mice
• onset of progressive motor impairment is 7 weeks of age
• mice show better initial performance relative to the other transgenic lines, then show a steady decline in performance
• 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
Spinocerebellar Ataxia 17; SCA17 607136 J:130775