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EN
BAC RP23-361H17 was mutagenized to change arginine codon 274 (CGT) in exon 10 to glutamine (CAG) (p.R274Q) and used to replace the endogenous gene via homologous recombination. The loxP site flanked neomycin resistance gene cassette that was inserted into intron 10 was removed through subsequent cre-mediated recombination. The mutation mimics the gain-of-function mutation found in chronic mucocutaneous candidiasis (CMC) patients. (J:324282)
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
