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A floxed neomycin resistance cassette was inserted upstream of exon 10. Exon 11 was replaced with a modified one in which a TG were deleted. This mutation mimics the mutation found in patients with Naxos disease and results in a premature stop codon in exon 12. Flp-mediated recombination removed the selection cassette. RT-PCR confirmed reduced transcript expression. (J:222025)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
