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Phenotypes Associated with This Genotype
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn1tm1Hzo mutation (1 available); any Atxn1 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• premature death first occurs between 35 to 45 weeks of age
• none of the mice survive past 50 weeks of age

• growth retardation starts at 8 weeks of age
• mice weigh 20% less than wild-type littermates by 11 weeks of age
• mice start losing weight after 20 weeks of age

• in a context fear test, mice display significantly less freezing to the conditioned stimulus 24 hours after the training period but not 1 hour after
• 7-8 week old mice take more time and swim further to locate a submerged but visible platform in a morris water test during the first 6 trials
• mice perform as wells as wild-type controls in later trials
• 7-8 week old mice take more time and swim further to locate a hidden platform in a morris water test regardless of trial number
• mice have a clasping phenotype when lifted by the tail starting at 9 weeks of age
• evident by 20 weeks of age
• retention time in a rotarod test is impaired by about half for both 5 and 7 week old mice
• evident by 20 weeks of age

nervous system
• brain weight is significantly reduced by 16 weeks of age
• all ventricles are dilated by 40 weeks of age
• there is a reduction in dendritic arbor of cerebellar Purkinje neurons from mice 6 to 11 weeks of age
• this reduction in dendritic arbor leads to a reduction in membrane capacitance
• significantly fewer Purkinje cells are present in 40-week old mice compared to wild-type littermates
• ubiquitinated neuronal intranuclear inclusions (NI) are present in CA1 hippocampal neurons by 7 weeks of age
• NI are also present in cortical neurons and thalamic nuclei by 7 weeks of age
• NI are present in numerous parts of the brain during the endstage of disease
• EPSP magnitude is significantly decreased in the hippocampus 90 minutes after high-frequency stimulation
• hippocampus LTP is significantly reduced in 24 week old mice

• muscle wasting is evident by 20 weeks of age
• atrophy of lower limb muscles occurs by 30 weeks of age

• is observed by 30 weeks of age

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

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.08
The Jackson Laboratory