Phenotypes Associated with This Genotype

Genotype
MGI:4822571

• Allelic Composition: Tg(CMV-ATXN3*94Q)94Pama/0
• Genetic Background: B6.FVB-Tg(CMV-ATXN3*94Q)94Pama

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

behavior/neurological

behavior/neurological phenotype ( J:163032 )

N • mice exhibit normal gait pattern and limb strength between 16 and 84 weeks of age

impaired coordination ( J:163032 )

• beginning at 16 weeks on a rotarod

• heterozygous mice tend to spend more time on a rotarod than homozygous mice

decreased locomotor activity ( J:163032 )

• mice tend to exhibit a decrease of locomotor activity compared with wild-type mice

nervous system

nervous system phenotype ( J:163032 )

N • mice do not exhibit intranuclear inclusions at 49 weeks

astrocytosis ( J:163032 )

• at 49 weeks in the substantia nigra and vestibular nuclei

neurodegeneration ( J:163032 )

• at 16 weeks, mice exhibit mild neuronal atrophy unlike wild-type mice

cellular

abnormal cell physiology ( J:163032 )

• mice exhibit generational instability and somatic mosaicism in CAG repeats of the transgene

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Machado-Joseph disease		DOID:1440	OMIM:109150	J:163032