Phenotypes associated with this allele

• Allele Symbol: Atxn3^tm1Hlp
• Allele Name: targeted mutation 1, Henry L Paulson
• Allele ID: MGI:5493478
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atxn3^tm1Hlp/Atxn3^tm1Hlp	involves: C57BL/6	MGI:5493481
ht2	Atxn3^tm1Hlp/Atxn3^+	involves: C57BL/6	MGI:5688780

Genotype
MGI:5493481

hm1

• Allelic Composition: Atxn3^tm1Hlp/Atxn3^tm1Hlp
• Genetic Background: involves: C57BL/6

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

nervous system

neuronal intranuclear inclusions ( J:219232 )

• mice exhibit widespread intranuclear accumulation of the mutant Atxn23 protein in the brain

Genotype
MGI:5688780

ht2

• Allelic Composition: Atxn3^tm1Hlp/Atxn3⁺
• Genetic Background: involves: C57BL/6

nervous system

neuronal cytoplasmic inclusions ( J:219232 )

• ubiquitin-positive extranuclear neuronal aggregates in the brain, especially in the stratum radiatum of the hippocampus, the subiculum, central amygdala and bed nucleus of the stria terminalis that are localized to neuritic processes

• extranuclear inclusions are seen as small puncta in the hippocampal neuropil at 3 months of age and grow over time into large, irregular structures by 1 year of age

neuronal intranuclear inclusions ( J:219232 )

• mice exhibit intranuclear accumulation of the mutant Atxn3 protein in the brain by 10 weeks of age and abundant nuclear inclusions

• however, degenerative changes in the brain are not seen

behavior/neurological

behavior/neurological phenotype ( J:219232 )

N • mice exhibit normal fear conditioning to shock