Cacna1atm3Maag
Targeted Allele Detail
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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: Chr8:85065268-85366875 bp, + strand Genetic Position: Chr8, 40.95 cM
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Alliance: |
Cacna1atm3Maag page
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Neurological deficits after spreading depression in Cacna1atm1Maag/Cacna1atm1Maag and Cacna1atm3Maag/Cacna1atm3Maag mice
Show the 1 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:144701
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Parent Cell Line: |
E14 (ES Cell)
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Strain of Origin: |
129P2/OlaHsd
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Single point mutation
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Mutation details: A 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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Cacna1a Mutation: |
115 strains or lines available
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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: |
18 reference(s) |
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