Phenotypes Associated with This Genotype

Genotype
MGI:5315442

• Allelic Composition: Atxn7^tm1Hzo/Atxn7^tm1Hzo
• Genetic Background: involves: 129S7/SvEvBrd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:179021 )

• mutants with 100 CAG repeats die earlier than heterozygotes, with a lifespan averaging 12.1 months

behavior/neurological

behavior/neurological phenotype ( J:179021 )

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

ataxia ( J:179021 )

• mutants with 100 CAG repeats progressively develop mild ataxia

abnormal gait ( J:179021 )

• 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

decreased Purkinje cell size ( J:179021 )

• Purkinje cells of mutants with 100 CAG repeats have smaller soma size, however numbers of Purkinje cells are normal

abnormal cerebellum vermis morphology ( J:179021 )

• 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

retina photoreceptor degeneration ( J:179021 )

• mutants with 100 CAG repeats develop retinal atrophy, first observed at 4 months of age

vision/eye

retina photoreceptor degeneration ( J:179021 )

• mutants with 100 CAG repeats develop retinal atrophy, first observed at 4 months of age

retina outer nuclear layer degeneration ( J:179021 )

• 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		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 7		DOID:0050958	OMIM:164500	J:179021