Phenotypes Associated with This Genotype

Genotype
MGI:5315439

• Allelic Composition: Atxn7^tm1Hzo/Atxn7⁺
• 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 exhibit a shorter lifespan than wild-type mice, with an average of 18.7 months

• mutants with 230 CAG repeats have an average lifespan of only 3.5 months

growth/size/body

weight loss ( J:179021 )

• in mutants with 100 and 230 CAG repeats

behavior/neurological

tremors ( J:179021 )

• in mutants with 100 and 230 CAG repeats

abnormal motor coordination/balance ( J:179021 )

• gradual loss of mobility in mutants with 100 and 230 CAG repeats

ataxia ( J:179021 )

• mutants with 100 and 230 CAG repeats progressively develop mild ataxia

nervous system

abnormal Bergmann glial cell morphology ( J:113150 )

• mice exhibit swollen and disoriented Bergmann glia radial processes

skeleton

kyphosis ( J:179021 )

• in mutants with 100 and 230 CAG repeats

vision/eye

blepharoptosis ( J:179021 )

• in mutants with 100 and 230 CAG repeats

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 7		DOID:0050958	OMIM:164500	J:113150 , J:179021