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Phenotypes Associated with This Genotype
Genotype
MGI:5707183
Allelic
Composition
Cacna1atm1.1Ehess/Cacna1atm1.1Ehess
Genetic
Background
C57BL/6-Cacna1atm1.1Ehess
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm1.1Ehess mutation (0 available); any Cacna1a mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
N
• mice do not exhibit obvious motor abnormalities at baseline
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory