A 6.8-kb genomic DNA segment containing exons 11-21 has been replaced with a cassette containing a EN2-SA-internal ribosomal entry site (IRES) followed by a beta-galactosidase-neomycin phosphotransferase (-neo) fusion gene (betageo). A loxP-flanked selection cassette containing Pgk-neo and MC1 tk genes was deleted by cre recombinase. The deleted segment encodes the predicted IIS2 and IIS4 transmembrane domains and the third predicted intracellular domain; the modification also is predicted to cause a frame-shift upon splicing of exon 10 to exon 22. RT-PCR analysis of RNA from cerebellum, cortex, olfactory bulb, and thalamus of homozygous mutant mice confirmed that no full-length Cacna1i mRNA is generated. (J:175607)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
Recessive
1
2
3

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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