Phenotypes Associated with This Genotype

Genotype
MGI:3772885

• Allelic Composition: Tg(Prnp-TBP*)105Xjl/0
• Genetic Background: FVB/N-Tg(Prnp-TBP*)105Xjl

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:130775 )

• mice have reduced lifespans relative to wild-type; mice start to die as early as 9 weeks of age

growth/size/body

decreased body size ( J:130775 )

• symptomatic mice are visibly smaller than normal littermates at 3 months

weight loss ( J:130775 )

• mice begin to lose body weight at 8 weeks of age

behavior/neurological

poor grooming ( J:130775 )

• symptomatic mice can be distinguished from normal littermates at 3 months of age by poorly groomed appearance

limb grasping ( J:130775 )

• displayed by some mice

tremors ( J:130775 )

• displayed by some mice

abnormal motor coordination/balance ( J:130775 )

• onset of progressive motor impairment is 6 weeks of age

impaired coordination ( J:130775 )

• mice perform poorly on a non-accelerating rotating rod at 6 weeks of age, and do not show any subsequent improvement

sporadic seizures ( J:130775 )

• some mice exhibit spontaneous seizures

nervous system

sporadic seizures ( J:130775 )

• some mice exhibit spontaneous seizures

gliosis ( J:130775 )

• gliosis is observed in granular and Purkinje cell layers of cerebellum

abnormal neurite morphology ( J:130775 )

• loss or disruption of calbindin-positive neurites in cerebellar molecular layer is observed in mutants

neuron degeneration ( J:130775 )

• degenerating neurons are detected in granular layer of cerebellum

Purkinje cell degeneration ( J:130775 )

• degenerating Purkinje cells are evident in cerebellum

neuronal intranuclear inclusions ( J:130775 )

• prominent nuclear inclusions form in cerebellar granule neurons

axon degeneration ( J:130775 )

• 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

kyphosis ( J:130775 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 17		DOID:0050967	OMIM:607136	J:130775