Phenotypes Associated with This Genotype

Genotype
MGI:5903412

• Allelic Composition: Cacna1a^tm2.1Maag/Cacna1a^tm2.1Maag; Tg(Pcp2-cre)2Mpin/0
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

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

behavior/neurological

impaired righting response ( J:234599 )

• mice start showing problems righting themselves around P10-P12

tremors ( J:234599 )

• slight, but significant, increase in tremor with age

ataxia ( J:234599 )

• ataxia starts at P10-12

impaired balance ( J:234599 )

• mice start showing loss of balance during walking around P10-12

impaired coordination ( J:234599 )

• P18 mice perform worse on the rotarod than wild-type mice

• P30 mice are severely impaired on the rotarod, staying a shorter amount of time on the accelerating rod than wild-type mice, falling off the rod at a lower rotating speed, and do not improve over time

nervous system

abnormal brain interneuron morphology ( J:234599 )

• degeneration of molecular layer interneurons by P200-250

abnormal cerebellum morphology ( J:234599 )

• volume reductions and increase in surface density in all cerebellar nuclei

Purkinje cell degeneration ( J:234599 )

• neurodegenerative changes are first seen around P45, with argyrophylic staining in the Purkinje cell layer

• Purkinje cell degeneration in the cerebellum is clearly seen from P60, showing somatic sprouting and axonal swellings and progresses until P200-P250 when a significant decrease in Purkinje cell number is seen

abnormal cerebellar granule cell morphology ( J:234599 )

• degeneration of granule cells by P200-250

abnormal cerebellar molecular layer ( J:234599 )

• neurodegenerative changes are first seen around P45, with argyrophylic staining in the molecular layer

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cerebellar ataxia		DOID:0050753		J:234599