Exons 10 through 14 were replaced with a loxP site, wild-type cDNA fusion encompassing exons 10 through 14, an FRT-flanked neomycin resistance cassette with a 3' loxP site, and a cDNA fusion of exons 10 through 14 with the TG deletion in exon 10 and premature stop codon in exon 12. This mutation mimics the mutation found in patients with Naxos disease. Cre-mediated recombination removed the wild-type cDNA fusion. Western blot analysis confirms normal expression levels of the truncated protein. (J:222025)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion
--
1
7
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

Title
PMID
Journal
Year
IF
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