Cacna1a^tm1Lory
Targeted Allele Detail

Summary

• Symbol: Cacna1a^tm1Lory
• Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 1, Philippe Lory
• MGI ID: MGI:6226076
• Synonyms: Cav2.1^R1497X
• Gene: Cacna1a Location: Chr8:85065268-85366875 bp, + strand Genetic Position: Chr8, 40.95 cM
• Alliance: Cacna1a^tm1Lory page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:258570
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Dominant negative)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Point mutations, AGG codon at position 4489 to TGA, were inserted in exon 29 resulting in the R1497X missense mutation. The mutated codon leads to a premature stop at position 1497. The truncated channel lacks the fourth domain and C-terminus. (J:258570)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 115 strains or lines available

References

• Original: J:258570 Dorgans K, et al., Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2. Neurobiol Dis. 2017 Oct;106:110-123
• All: 1 reference(s)