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Targeted Allele Detail
Symbol: Cacna1atm1Maag
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: Chr8:84338639-84640246 bp, + strand  Genetic Position: Chr8, 40.95 cM
Neurological deficits after spreading depression in Cacna1atm1Maag/Cacna1atm1Maag and Cacna1atm3Maag/Cacna1atm3Maag mice

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

Germline Transmission:  Earliest citation of germline transmission: J:88693
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted
Mutation:    Insertion
Mutation detailsThe 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 4 anatomical structures
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:  40 strains or lines available
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:  22 reference(s)

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
MGI 6.14
The Jackson Laboratory