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

cellular

gliosis ( J:130775 )

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

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