Phenotypes Associated with This Genotype

Genotype
MGI:4398718

• Allelic Composition: Tg(Pcp2-SCA7)P7EJman/0
• Genetic Background: involves: C57BL/6 * SJL

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

behavior/neurological

impaired coordination ( J:65411 )

• mutants show impaired performance on the rotarod at 11 months of age, but not earlier, and are unable to improve their performance during successive days

nervous system

Purkinje cell degeneration ( J:65411 )

• at 16 months of age, but not at 11 months, mutants exhibit a reduction in the density of Purkinje cells, indicating degeneration

abnormal Purkinje cell dendrite morphology ( J:65411 )

• at 16 months of age, but not at 11 months, mutants exhibit a reduction in the dendritic arbor of Purkinje cells

neuronal intranuclear inclusions ( J:65411 )

• progressive formation of ubiquitin and proteasome-immunoreactive nuclear inclusions composed of the N-terminal fragment of the mutant protein

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 7		DOID:0050958	OMIM:164500	J:65411