Mouse Genome Informatics
ht
    Atxn7tm1Hzo/Atxn7+
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
• death at 14 to 19 weeks of age
• mice exhibit normal growth until 5 weeks of age, with little to no weight gain thereafter; mice did not eat or drink during terminal stages prior to death

behavior/neurological
• gait ataxia displayed by 8 to 9 weeks of age
• impaired motor coordination in rotarod test
• exhibited at terminal stage prior to death
• some mice developed myoclonic seizures around 12 weeks of age

muscle
• some mice developed myoclonic seizures around 12 weeks of age

reproductive system
• females were infertile at 8 weeks of age (J:82072)
• males showed reduced fertility at 16 weeks of age (J:82072)

skeleton

vision/eye
• loss of ~20% of photoreceptors from outer nuclear layer at 15 weeks of age; retinal dysfunction occurring prior to the loss of photorecptors, cone dysfunction occuring prior to rod dysfunction; accumulation of Sca7 protein, forming microaggregates by 8 weeks of age
• shortening of outer segments
• eyes receded and ptosis developed as mice aged
• thinning of inner plexiform layer

nervous system
• some mice developed myoclonic seizures around 12 weeks of age
• progressive accumulation of Sca7 protein, first evident at 5 weeks of age
• cell bodies were observed to be smaller than those of wild-type at 16 wks of age; normal numbers of Purkinje cells and their dendritic arbors are present at 16 wks of age
• loss of ~20% of photoreceptors from outer nuclear layer at 15 weeks of age; retinal dysfunction occurring prior to the loss of photorecptors, cone dysfunction occuring prior to rod dysfunction; accumulation of Sca7 protein, forming microaggregates by 8 weeks of age
• shortening of outer segments
• impaired posttetanic potentiation (PTP)

Mouse Models of Human Disease
OMIM IDRef(s)
Spinocerebellar Ataxia 7; SCA7 164500 J:82072