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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Intragenic deletion
--
1
2
18

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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