Phenotypes Associated with This Genotype

Genotype
MGI:5518618

• Allelic Composition: Tg(Pcp2-ATXN1*82Q)5Horr/0
• Genetic Background: involves: FVB/N

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

behavior/neurological

ataxia ( J:28932 , J:166951 )

• develop ataxia by 12 weeks of age (J:28932)

impaired coordination ( J:28932 , J:166951 )

• mice show a gentle swaying of the head while walking and early signs of general incoordination in the first 8-10 weeks of life, which progresses to ataxia (J:28932)

• mutants are impaired on the accelerating rotarod at 6 and 12 weeks of age and by 30 weeks of age, are unable to perform the test (J:166951)

abnormal gait ( J:166951 )

• wider hind stance that controls

decreased locomotor activity ( J:28932 )

• slight reduction in cage activity

nervous system

abnormal cerebellum morphology ( J:28932 )

• cerebellar abnormalities

Purkinje cell degeneration ( J:166951 )

• year old mutants show severe atrophy and loss of Purkinje cells

abnormal Purkinje cell dendrite morphology ( J:166951 )

• atrophy of the finer dendritic branches of Purkinje cells

thin cerebellar molecular layer ( J:166951 )

• reduction in molecular layer thickness

abnormal Purkinje cell innervation ( J:166951 )

• mean relative height of climbing fiber terminals among Purkinje cell dendrites is reduced compared to wild-type mice, indicating compromised extension of climbing fiber terminals on Purkinje cells dendrites into the molecular layer

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 1		DOID:0050954	OMIM:164400	J:166951