Phenotypes Associated with This Genotype

Genotype
MGI:5467323

• Allelic Composition: Tg(Pcp2-ATXN2*127Q)#Plt/0
• Genetic Background: involves: C57BL/6 * DBA/2

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

nervous system

abnormal Purkinje cell morphology ( J:191127 )

• perinuclear inclusions that increase in size with age

decreased Purkinje cell number ( J:191127 )

• at 40 weeks of age

thin cerebellar molecular layer ( J:191127 )

• at 12, 24 and 40 weeks of age

abnormal nervous system electrophysiology ( J:191127 )

• Purkinje cells exhibit a progressive decline in firing rate compared with wild-type cells

• however, the firing regularity is normal

behavior/neurological

impaired coordination ( J:191127 )

• progressive decline beginning as early as 8 weeks of age and worsens over the ensuing 28 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 2		DOID:0050955	OMIM:183090	J:191127