Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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: Chr1:154266477-154760247 bp, - strand  Genetic Position: Chr1, 66.14 cM
Alliance:	Cacna1etm1.1Tsch page

Germline Transmission:	Earliest citation of germline transmission: J:95636
Parent Cell Line:	E14.1 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: Crossing 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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:	102 strains or lines available

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:	18 reference(s)