Mouse Genome Informatics
ht
    Atxn1tm1Hzo/Atxn1+
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• premature death first occurs between 35 to 45 weeks of age
• none of the mice survive past 50 weeks of age

growth/size
• 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

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

skeleton
• is observed by 30 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Spinocerebellar Ataxia 1; SCA1 164400 J:77225