Phenotypes Associated with This Genotype

Genotype
MGI:8436615

• Allelic Composition: Atxn1^em5Hzo/Atxn1⁺; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: B6.Cg-Atxn1^em5Hzo Edil3^{Tg(Sox2-cre)1Amc}

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

mortality/aging

premature death ( J:387937 )

• median survival of approximately 75 weeks of age, indicating a delay in premature death this almost twice as long as in Atxn1^tm1Hzo homozygotes, with more than 75% of mice dying by around P80

behavior/neurological

decreased locomotor activity ( J:387937 )

• mice show a reduction in the overall distance traveled in the open field similar to that seen in Atxn1^tm1Hzo homozygotes

• however, mice show normal performance on the rotarod, even at 36 weeks of age

growth/size/body

weight loss ( J:387937 )

• mice exhibit a reduction in weight by 52 weeks of age indicating a delay in weight loss compared to Atxn1^tm1Hzo homozygotes

nervous system

neuronal intranuclear inclusions ( J:387937 )

• intranuclear ATXN1 aggregates are seen in CA1 hippocampal neurons, Purkinje neurons, and motor neurons of aged mice, between 36 and 48 weeks of age

respiratory system

abnormal respiration ( J:387937 )

• close to the time of premature death at 72 weeks of age, and not earlier at 24 or 48 weeks of age, mice develop a reduction in tidal volume with a compensatory increase in respiratory rate, indicative of neuromuscular respiratory weakness

abnormal tidal volume ( J:387937 )

• mice at 24 weeks of age show a slight, but significant, increase in tidal volume

• mice close to the time of premature death at 72 weeks of age develop a reduction in tidal volume

increased pulmonary respiratory rate ( J:387937 )

• mice close to the time of premature death at 72 weeks of age show an increase in respiratory rate to compensate for the reduced tidal volume

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia 1		DOID:0050954	OMIM:164400	J:387937