The majority of exon 18 was replaced with an ires-cre cassette followed by a CAG-driven FRT-flanked neo gene via homologous recombination. The mutant protein lacks the terminal 1717 amino acids containing the calmodulin binding domain and the C-terminus. The deletion of a 2.6-kb genomic region of exon 18 yields a nonsense mutation resulting in a bicistronic mRNA product containing protein truncated at amino acid 1405, and ires-derived cre expression. Northern and Western blot analysis confirmed the predicted truncation of the mRNA and protein in homozygotes. (J:228026)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion
--
1
9
1

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

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PMID
Journal
Year
IF
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