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An arginine to cysteine mutation was introduced to codon 154 (R154C) of exon 1 along with a floxed neo cassette via homologous recombination. R154C is a mutation commonly found in human epidermolytic hyperkeratosis (EHK). The floxed neo cassette prevents expression of the mutant allele until its removal by cre-mediated recombination. RNA analysis revealed the mutant allele is expressed at 35%-40% of wild-type. (J:82300)
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
