About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2651696
Allelic
Composition
Atxn7tm1Hzo/Atxn7+
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn7tm1Hzo mutation (1 available); any Atxn7 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• death at 14 to 19 weeks of age (J:82072)
• 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 (J:82072)
• death at 14 to 19 weeks of age (J:82072)
• 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 (J:82072)

behavior/neurological
• gait ataxia displayed by 8 to 9 weeks of age (J:82072)
• gait ataxia displayed by 8 to 9 weeks of age (J:82072)
• impaired motor coordination in rotarod test (J:82072)
• impaired motor coordination in rotarod test (J:82072)
• exhibited at terminal stage prior to death (J:82072)
• exhibited at terminal stage prior to death (J:82072)
• some mice developed myoclonic seizures around 12 weeks of age (J:82072)
• some mice developed myoclonic seizures around 12 weeks of age (J:82072)

muscle
• some mice developed myoclonic seizures around 12 weeks of age (J:82072)
• some mice developed myoclonic seizures around 12 weeks of age (J:82072)

reproductive system
• females were infertile at 8 weeks of age (J:82072)
• females were infertile at 8 weeks of age (J:82072)
• males showed reduced fertility at 16 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 (J:82072)
• 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 (J:82072)
• shortening of outer segments (J:82072)
• shortening of outer segments (J:82072)
• eyes receded and ptosis developed as mice aged (J:82072)
• eyes receded and ptosis developed as mice aged (J:82072)
• thinning of inner plexiform layer (J:82072)
• thinning of inner plexiform layer (J:82072)

nervous system
• some mice developed myoclonic seizures around 12 weeks of age (J:82072)
• some mice developed myoclonic seizures around 12 weeks of age (J:82072)
• progressive accumulation of Sca7 protein, first evident at 5 weeks of age (J:82072)
• progressive accumulation of Sca7 protein, first evident at 5 weeks of age (J:82072)
• 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 (J:82072)
• 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 (J:82072)
• 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 (J:82072)
• 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 (J:82072)
• shortening of outer segments (J:82072)
• shortening of outer segments (J:82072)
• impaired posttetanic potentiation (PTP) (J:82072)
• impaired posttetanic potentiation (PTP) (J:82072)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory