About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5315461
Allelic
Composition
Atxn7tm1Hzo/Atxn7tm1Hzo
Kat2atm3.1Roth/Kat2a+
Genetic
Background
involves: 129 * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atxn7tm1Hzo mutation (1 available); any Atxn7 mutation (38 available)
Kat2atm3.1Roth mutation (1 available); any Kat2a mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• average life span of double mutants with 100 CAG repeats in Atxn7 is 10.7 +/- 7.5 months, and none of the mutants survive more than 1 year

behavior/neurological
• 66.6% of double mutants with 100 CAG repeats in Atxn7 are unable to stretch out their hindlimbs upon tail suspension and exhibit limb grasping at 6-8 months of age
• double mutants with 100 CAG repeats in Atxn7 exhibit ataxic gait
• at 8-9 months of age, but not 4 months of age, double mutants with 100 CAG repeats in Atxn7 walk with a significantly wider hind stance and dispersed fore- and hind-steps relative to wild-type mice, indicating an uncoordinated walking gait
• this uncoordinated walking gait is worse in these double mutants with 100 CAG repeats than in single homozygous or heterozygous Atxn7 mice with 100 CAG repeats
• gait of double mutants with 100 CAG repeats deteriorates over time into a severe stagger

nervous system
• double mutants with 100 CAG repeats in Atxn7 have fewer Purkinje cells at 9 months of age, but not at 5 months of age, indicating a loss of these cells
• Purkinje cell loss is significantly worse in lobule X of double mutants with 100 CAG repeats in Atxn7 than in other regions
• double mutants with 100 CAG repeats in Atxn7 have fewer Purkinje cells at 9 months of age, but not at 5 months of age, indicating a loss of these cells
• Purkinje cells of double mutants with 100 CAG repeats in Atxn7 have smaller soma size
• the cerebellar vermis of double mutants with 100 CAG repeats in Atxn7 shows cortical atrophy in the molecular layer of lobules VI, VII, and X at 8-9 months of age; atrophy is more severe in the double mutants than in single Atxn7tm1Hzo homozygotes with 100 CAG repeats
• by 2 months of age, double mutants with 100 CAG repeats in Atxn7 exhibit thinner inner segment layers of the retina, indicating photoreceptor degeneration
• by 2 months of age, double mutants with 100 CAG repeats in Atxn7 exhibit thinner outer segment layers of the retina, which is completely gone by 8 months of age, indicating photoreceptor degeneration
• double mutants with 100 CAG repeats in Atxn7 develop retinal atrophy, first observed at 1.5-2 months of age, indicating accelerated retinal degeneration compared to single Atxn7 homozygous mice with 100 CAG repeats

vision/eye
• by 2 months of age, double mutants with 100 CAG repeats in Atxn7 exhibit thinner inner segment layers of the retina, indicating photoreceptor degeneration
• by 2 months of age, double mutants with 100 CAG repeats in Atxn7 exhibit thinner outer segment layers of the retina, which is completely gone by 8 months of age, indicating photoreceptor degeneration
• double mutants with 100 CAG repeats in Atxn7 develop retinal atrophy, first observed at 1.5-2 months of age, indicating accelerated retinal degeneration compared to single Atxn7 homozygous mice with 100 CAG repeats
• in double mutants with 100 CAG repeats in Atxn7
• in double mutants with 100 CAG repeats in Atxn7
• double mutants with 100 CAG repeats in Atxn7 show progressive thinning of the outer nuclear layer and inner nuclear layer at 4 months of age that is drastic my 8 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spinocerebellar ataxia type 7 DOID:0050958 OMIM:164500
J:179021


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
12/10/2024
MGI 6.24
The Jackson Laboratory