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Targeted Allele Detail
Symbol: Cacna1atm3Maag
Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 3, Arn van den Maagdenberg
MGI ID: MGI:3836195
Synonyms: Cacna1aS218L, Cacna1atm1Caya, FHM-1
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:144701
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsA transition of C to T results in the amino acid substitution of serine with leucine at position 220 (p.S220L), replicating the S218L mutation found in some familial hemiplegic migraine type 1 (FHM1) patients. A loxP site flanked neomycin resistance gene cassette inserted upstream of exon 5 was removed through germ line cre-mediated recombination. (J:144701, J:211767)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 2 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:144701 Eikermann-Haerter K, et al., Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1. J Clin Invest. 2009 Jan;119(1):99-109
All:  11 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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MGI 6.14
The Jackson Laboratory