Cacna1a^tm1Maag
Targeted Allele Detail

Summary

• Symbol: Cacna1a^tm1Maag
• Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 1, Arn van den Maagdenberg
• MGI ID: MGI:3037859
• Synonyms: FHM-1, R192Q
• Gene: Cacna1a Location: Chr8:85065268-85366875 bp, + strand Genetic Position: Chr8, 40.95 cM
• Alliance: Cacna1a^tm1Maag page

Neurological deficits after spreading depression in Cacna1a^tm1Maag/Cacna1a^tm1Maag and Cacna1a^tm3Maag/Cacna1a^tm3Maag mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:88693
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted
• Mutation: Insertion
• Mutation details: The human mutation R192Q (p.R194Q in mouse) was knocked in to exon 4 via homologous recombination along with a floxed neo cassette. Mice carrying both the R194Q and the loxP site flanked neomycin resistance gene cassette were fertile and showed no overt phenotype. The neo cassette was removed through cre-mediated recombination. The presence of the mutation in the resulting animals was confirmed by PCR and restriction enzyme digestion. Semi-quantitative Western blot analysis indicated that the mutant protein was expressed as well as the normal protein. (J:88693)

Disease models

Expression

In Structures Affected by this Mutation:

3 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:88693 van den Maagdenberg AM, et al., A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron. 2004 Mar 4;41(5):701-10
• All: 28 reference(s)