Phenotypes Associated with This Genotype

Genotype
MGI:5750701

• Allelic Composition: Atxn3^{tm2.1(ATXN3*)Mfig}/Atxn3⁺
• Genetic Background: involves: 129 * C57BL/6J

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

behavior/neurological

impaired coordination ( J:218541 )

• mice show impaired performance on the rotarod at 90 weeks of age

• mutants show increased latency to turn 180 degrees on the static rod apparatus compared to wild-type mice

nervous system

abnormal Purkinje cell morphology ( J:218541 )

• Purkinje cell bodies are smaller and irregular

• Purkinje cells with more than one dendrite are seen in mutants but rarely in wild-type mice

decreased Purkinje cell size ( J:218541 )

astrocytosis ( J:218541 )

• 12 month old mice show increased astrogliosis in the cerebellar white matter and substantia nigra of the midbrain

neuronal cytoplasmic inclusions ( J:218541 )

• perinuclear inclusions containing polyQ protein are seen in various brain regions, including the cerebellum, the cerebral cortex, and the hippocampus

neuronal intranuclear inclusions ( J:218541 )

• intranuclear inclusions containing polyQ protein are seen in various brain regions, including the cerebellum, the cerebral cortex, and the hippocampus

neurodegeneration ( J:218541 )

• mice exhibit cerebellar neurodegeneration

Purkinje cell degeneration ( J:218541 )

• mild loss of Purkinje cells in the nodular zone and the anterior region

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Machado-Joseph disease		DOID:1440	OMIM:109150	J:218541