Phenotypes Associated with This Genotype

Genotype
MGI:5662096

• Allelic Composition: Tg(Pcp2-tTA)3Horr/0; Tg(tetO-SPTBN2*)#Lpwr/0
• Genetic Background: involves: FVB/N

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

behavior/neurological

impaired coordination ( J:215593 )

• mice show deficits on the accelerating rotarod at 26 weeks of age but not at earlier time points

abnormal gait ( J:215593 )

• mice exhibit alterations in gait, with increases in both step angle variance and stance width

nervous system

abnormal cerebellum morphology ( J:215593 )

• cerebellar N-acetylaspartate concentrations decline with age

• progressive cerebellar degeneration

abnormal Purkinje cell dendrite morphology ( J:215593 )

• mice exhibit altered metabotropic glutamate receptor 1alpha localization at Purkinje cell dendritic spines

thin cerebellar molecular layer ( J:215593 )

• thinning of the cerebellar molecular layer

abnormal nervous system physiology ( J:215593 )

• mice show a 35% decrease in the metabotropic glutamate receptor 1alpha-mediated response to parallel fiber stimulation but little change in AMPA responsiveness compared with controls

reduced long-term potentiation ( J:215593 )

• the metabotropic glutamate receptor 1alpha-mediated long term potentiation (LTP) is absent

• mice show reduced amplitude and LTP of long-latency patches

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 5		DOID:0050882	OMIM:600224	J:215593