Phenotypes Associated with This Genotype

Genotype
MGI:5317102

• Allelic Composition: Tg(Pcp2-tTA)3Horr/0; Tg(tetO-ATXN1*82Q)#Horr/Tg(tetO-ATXN1*82Q)#Horr
• Genetic Background: involves: FVB/N

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

behavior/neurological

ataxia ( J:95453 )

• by 12 weeks of age, but not at 6 weeks of age, mutants start to show signs of ataxia by home cage behavior

• by 32 weeks of age, mutants exhibit overt ataxia

• treatment with doxycycline at 12 or at 32 weeks of age to turn off expression of the gene results in improvement in home cage behavior

impaired coordination ( J:95453 )

• 6 week old mutants exhibit a moderate deficiency on the accelerating rotarod which gets worse at 12 weeks of age and by 32 weeks of age, mutants are unable to stay on the accelerating rotarod

• treatment with doxycycline at 6, 12 or at 32 weeks of age to turn off expression of the gene results in a partial improvement in rotarod performance, but only after an extended period of dox treatment

nervous system

abnormal Purkinje cell morphology ( J:95453 )

• 6 week old mutants exhibit a mild Purkinje cell atrophy that includes cytoplasmic vacuoles, some dendritic pruning, heterotypic Purkinje and nuclear inclusions

• by 12 and 32 weeks of age, Purkinje cell atrophy is very extensive

• treatment with doxycycline at 6, 12 or at 32 weeks of age to turn off expression of the gene results in improvement of Purkinje cell pathology

abnormal Purkinje cell dendrite morphology ( J:95453 )

• at 12 weeks of age, mutants exhibit a decrease in dendritic arborization and distribution of spines along the remaining dendrites

• treatment with doxycycline at 12 or at 32 weeks of age to turn off expression of the gene results in increased arborization of the Purkinje cell dendritic tree

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 1		DOID:0050954	OMIM:164400	J:95453