Phenotypes Associated with This Genotype

Genotype
MGI:3772883

• Allelic Composition: Tg(Prnp-TBP*)71-16Xjl/0
• Genetic Background: FVB/N-Tg(Prnp-TBP*)71-16Xjl

• ♀: 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 at 21 weeks of age

growth/size/body

decreased body size ( J:130775 , J:221703 )

• symptomatic mice are visibly smaller than normal littermates at 6.5 months (J:130775)

slow postnatal weight gain ( J:221703 )

weight loss ( J:130775 )

behavior/neurological

poor grooming ( J:130775 )

• symptomatic mice can be distinguished from normal littermates at 6.5 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 7 weeks of age

impaired coordination ( J:130775 , J:221703 )

• mice show better initial performance relative to the other transgenic lines, then show a steady decline in performance (J:130775)

• decreased rotarod performance (J:221703)

hunched posture ( J:221703 )

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 neuron morphology ( J:130775 )

• TBP-71Q is relatively diffuse in neuronal nuclei in the brain

Purkinje cell degeneration ( J:130775 )

• degenerating Purkinje cells are evident in cerebellum

abnormal neurite morphology ( J:130775 )

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

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

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