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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: Chr8:84388440-84640246 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 was knocked in to exon 4 via homologous recombination along with a floxed neo cassette. Mice carrying both the R129Q and the floxed neo were fertile and showed no overt phenotype. Crossing with Tg(EIIa-cre)C5379Lmgd mice removed the neo cassette. The presence of the R192Q 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)
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Disease models
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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:  42 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:  18 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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