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Cacna1aTg-5J
Spontaneous Allele Detail
Summary
Symbol: Cacna1aTg-5J
Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; tottering 5 Jackson
MGI ID: MGI:2181625
Gene: Cacna1a  Location: Chr8:85065268-85366875 bp, + strand  Genetic Position: Chr8, 40.95 cM
Alliance: Cacna1aTg-5J page
Mutation
origin
Strain of Origin:  B10.M-H2f/nMob Fmn1ld-2J/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA G to A substitution at coding cDNA nucleotide 3899 (c.3899G>A) results in a change of arginine codon 1300 to glutamine (p.R1300Q). (J:137816)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cacna1a Mutation:  118 strains or lines available
References
Original:  J:137816 Miki T, et al., Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies. Neuroscience. 2008 Jul 31;155(1):31-44
All:  1 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
12/10/2024
MGI 6.24
The Jackson Laboratory