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中文
编码肽的BRICHOS区域，第121位的 cysteine (C121) 被替换为甘氨酸 (GCG)，这导致了p.C121G的变异。同时，一个loxP序列引导的诺卡因抗性基因被插入到了第4个内含子。这个突变影响了形成与C185的二硫键，这是保证蛋白质正确折叠的关键。新插入的诺卡因 cassette 抑制了基因的表达，基因转录量只有6%，肽的表达则检测不到。(引用:J:279196)
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
