Cacna1e^tm1.1Tsch
Targeted Allele Detail

Summary

• Symbol: Cacna1e^tm1.1Tsch
• 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: Cacna1e^tm1.1Tsch page

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 details: Crossing Cacna1e^tm1Tsch 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

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Cacna1e^tm1.1Tsch/Cacna1e^tm1.1Tsch	involves: BALB/cJ * C57BL/6
hm2	Cacna1e^tm1.1Tsch/Cacna1e^tm1.1Tsch	involves: C57BL/6

Phenotypes:

Affected Systems	hm1	hm2
show or hide all annotated terms
endocrine/exocrine glands	√	√
decreased pancreatic alpha cell number		√
abnormal glucagon secretion		√
decreased glucagon secretion	√
abnormal pancreatic beta cell physiology		√
decreased insulin secretion	√	√
growth/size/body	√
increased body weight	√
homeostasis/metabolism	√	√
abnormal glucagon secretion		√
decreased glucagon secretion	√
decreased insulin secretion	√	√
increased circulating glucose level	√	√
hyperglycemia	√
decreased circulating glucagon level		√
impaired glucose tolerance	√	√
decreased physiological sensitivity to xenobiotic	√

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

Expression

In Structures Affected by this Mutation:

3 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 Cacna1e Mutation: 102 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: 20 reference(s)