Cacna1a^tm1.1Ehess
Targeted Allele Detail

Summary

• Symbol: Cacna1a^tm1.1Ehess
• Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 1.1, Ellen Hess
• MGI ID: MGI:5704132
• Synonyms: EA2
• Gene: Cacna1a Location: Chr8:85065268-85366875 bp, + strand Genetic Position: Chr8, 40.95 cM
• Alliance: Cacna1a^tm1.1Ehess page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:217557
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: An F1406C mutation (c.4486T>G) was introduced into exon 26 and a floxed neo cassette was inserted downstream of exon 26 via homologous recombination. Cre mediated recombination removed the neo cassette. Homozygous mice display a ~70% reduction in Cav2.1 current density in Purkinje cells. (J:217557)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Cacna1a Mutation: 118 strains or lines available

References

• Original: J:217557 Rose SJ, et al., The first knockin mouse model of episodic ataxia type 2. Exp Neurol. 2014 Nov;261:553-62
• All: 1 reference(s)