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Phenotypes Associated with This Genotype
involves: FVB/N
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phenotype observed in females
phenotype observed in males
N normal phenotype
• develop ataxia by 12 weeks of age (J:28932)
• mice show a gentle swaying of the head while walking and early signs of general incoordination in the first 8-10 weeks of life, which progresses to ataxia (J:28932)
• mutants are impaired on the accelerating rotarod at 6 and 12 weeks of age and by 30 weeks of age, are unable to perform the test (J:166951)
• slight reduction in cage activity
• wider hind stance that controls

nervous system
• cerebellar abnormalities
• year old mutants show severe atrophy and loss of Purkinje cells
• atrophy of the finer dendritic branches of Purkinje cells
• reduction in molecular layer thickness
• mean relative height of climbing fiber terminals among Purkinje cell dendrites is reduced compared to wild-type mice, indicating compromised extension of climbing fiber terminals on Purkinje cells dendrites into the molecular layer

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
spinocerebellar ataxia type 1 DOID:0050954 OMIM:164400

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.13
The Jackson Laboratory