Mouse Genome Informatics
tg
    Tg(Prnp-TBP*)71-27Xjl/0
FVB/N-Tg(Prnp-TBP*)71-27Xjl
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice have reduced lifespans relative to wild-type; mice start to die at 11.5 weeks of age

growth/size/body
• 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

behavior/neurological
• 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
OMIM IDRef(s)
Spinocerebellar Ataxia 17; SCA17 607136 J:130775