A loxP site was inserted into intron 9 and an FRT site flanked neomycin resistance gene cassette, an mloxP site, an inverted and mutated copy of exon 10, a second loxP site and a second mloxP site were inserted into intron 10. Only after Cre-mediated recombination, when the mutated exon 10 inverts and replaces the wildtype exon through specific recombination between the two loxP sites and the two mloxP sites, will the mutated transcript and peptide be expressed. The mutation involved changing arginine codon 274 (CGT) to glutamine (CAA) (p.R274Q), which replicates the same human mutation found in autosomal dominant chronic mucocutaneous candidiasis (CMCC) patients. The neo cassette was removed through subsequent Flp-mediated recombination. (J:338134)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion
--
1
8
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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