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Cacna1etm1.1Tsch
Targeted Allele Detail
Nomenclature
Symbol: Cacna1etm1.1Tsch
Name: calcium channel, voltage-dependent, R type, alpha 1E subunit; targeted mutation 1.1, Toni Schneider
MGI ID: MGI:3526823
Synonyms: Cav2.3-
Gene: Cacna1e  Location: Chr1:154390731-154884501 bp, - strand  Genetic Position: Chr1, 66.14 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:95636
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsCrossing Cacna1etm1Tsch mice with a strain expressing Cre ubiquitously resulted in the excision of exon 2, which encodes the first transmembrane segment of domain 1 and the adjacent loop to IS2. RT-PCR analysis revealed a different splice pattern for exon 1 than expected, producing a novel second exon of 204 bp that contained an in-frame stop codon. Western blot analysis of mutant brain microsomal membranes detected no protein expression from any Cacna1e subunit. (J:95636)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Cacna1e Mutation:  55 strains or lines available
References
Original:  J:95636 Pereverzev A, et al., Disturbances in glucose-tolerance, insulin-release, and stress-induced hyperglycemia upon disruption of the Ca(v)2.3 (alpha 1E) subunit of voltage-gated Ca(2+) channels. Mol Endocrinol. 2002 Apr;16(4):884-95
All:  15 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
02/16/2021
MGI 6.16
The Jackson Laboratory