Mouse Genome Informatics
tg
    Tg(Prnp-TBP*)105Xjl/0
FVB/N-Tg(Prnp-TBP*)105Xjl
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 as early as 9 weeks of age

growth/size
• symptomatic mice are visibly smaller than normal littermates at 3 months
• mice begin to lose body weight at 8 weeks of age

behavior/neurological
• symptomatic mice can be distinguished from normal littermates at 3 months of age by poorly groomed appearance
• displayed by some mice
• displayed by some mice
• onset of progressive motor impairment is 6 weeks of age
• 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
• loss or disruption of calbindin-positive neurites in cerebellar molecular layer is observed in mutants
• degenerating neurons are detected in granular layer of cerebellum
• degenerating Purkinje cells are evident in cerebellum
• prominent nuclear inclusions form in cerebellar granule neurons
• 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

skeleton
• posture is conspicuously abnormal in mutants; kyphosis, indicative of proximal muscle weakness, is observed by 3 months of age

Mouse Models of Human Disease
OMIM IDRef(s)
Spinocerebellar Ataxia 17; SCA17 607136 J:130775