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中文
BAC RP23-361H17经过基因改造，将第10号外显子的arginine(274)密码子由CGT替换为glutamine(CTQ)，产生了p.R274Q的突变。这个突变被用来通过同源重组替换体内原有的基因。随后，通过Cre介导的再编辑，去除了插入在第10号内含子中的含loxP标记的耐药性基因元件。这种突变模拟了慢性黏膜皮肤念珠菌病（CMC）患者中发现的致病功能增强的突变。(来源：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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References Literature
Title
PMID
Journal
Year
IF
