Phenotypes Associated with This Genotype

Genotype
MGI:5523236

• Allelic Composition: Tg(Pcp2-ATXN3*69Q)bHirai/0
• Genetic Background: Not Specified

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

behavior/neurological

ataxia ( J:136101 )

• severe ataxia is seen from as early as 3 weeks of age

• lentivector-mediated expression of AGAP3 (CRAG) in Purkinje cells rescues the ataxic phenotype and clears polyQ aggregates

impaired coordination ( J:136101 )

• impaired rotarod performance

nervous system

abnormal cerebellar Purkinje cell layer ( J:136101 )

• disarrangement of Purkinje cells

abnormal Purkinje cell morphology ( J:136101 )

• ubiquitinated mutant ataxin-3 aggregates are seen in Purkinje cells; these polyQ aggregates are seen diffusely in both the cytoplasm and nuclei at P5, but by P10, they are confined to the nuclei

abnormal Purkinje cell dendrite morphology ( J:136101 )

• poor dendritic arborization of Purkinje cells

cerebellum atrophy ( J:136101 )

• cerebellar atrophy is seen from as early as 3 weeks of age

neuronal intranuclear inclusions ( J:136101 )

• inclusion bodies start to form at P40 in the cerebellum and drastically increase in number and size by P80

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Machado-Joseph disease		DOID:1440	OMIM:109150	J:136101