Mouse Genome Informatics
hm
    Atxn7tm1Hzo/Atxn7tm1Hzo
involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mutants with 100 CAG repeats die earlier than heterozygotes, with a lifespan averaging 12.1 months

behavior/neurological
N
• mutants with 100 CAG repeats at 7-8 months of age are able to stretch their hindlimbs normally upon tail suspension as in wild-type mice (J:179021)
• mutants with 100 CAG repeats progressively develop mild ataxia
• at 8-9 months of age, but not 4 months of age, mutants with 100 CAG repeats walk with a significantly wider hind stance and dispersed fore- and hind-steps relative to wild-type mice

nervous system
• Purkinje cells of mutants with 100 CAG repeats have smaller soma size, however numbers of Purkinje cells are normal
• the cerebellar vermis of mutants with 100 CAG repeats shows mild cortical atrophy in the molecular layer of lobules VI, VII, and X at 8-9 months of age
• mutants with 100 CAG repeats develop retinal atrophy, first observed at 4 months of age

vision/eye
• mutants with 100 CAG repeats develop retinal atrophy, first observed at 4 months of age
• mutants with 100 CAG repeats exhibit normal retinal development, however mild thinning of the retina outer nuclear layer is seen at 4 months of age, and by 8 months of age, the outer nuclear layer is drastically thinner

Mouse Models of Human Disease
OMIM IDRef(s)
Spinocerebellar Ataxia 7; SCA7 164500 J:179021