Phenotypes Associated with This Genotype

Genotype
MGI:5707183

• Allelic Composition: Cacna1a^tm1.1Ehess/Cacna1a^tm1.1Ehess
• Genetic Background: C57BL/6-Cacna1a^tm1.1Ehess

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

nervous system

abnormal channel response ( J:217557 )

• mice exhibit an approximate 70% reduction in the calcium current of dissociated Purkinje cells

• Purkinje cells are more sensitive to the Ca(v)1.2 channel blocker nimodipine and the Ca(v)2.2 channel blocker omega-conotoxin-GVIA

• whole-cell currents in Purkinje cells are much less sensitive to the Ca(v)2.1 blocker omega-conotoxin-MVIIC

• however, mice do not exhibit abnormalities in cerebellar anatomy or gross Purkinje cell death

behavior/neurological

behavior/neurological phenotype ( J:217557 )

N • mice do not exhibit obvious motor abnormalities at baseline

N • common triggers like caffeine and EtOH do not elicit episodic motor dysfunction

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
episodic ataxia type 2		DOID:0050990	OMIM:108500	J:217557