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中文
编码肽的BRICHOS区域的cysteine 121（TGC）被替换为甘氨酸（GGC）（p.C121G），并在内含子4插入了loxP位点标记的诺卡因抗性基因。随后通过Cre介导的重组移除了neo cassette。这个突变导致无法形成与C185的二硫键，这是蛋白质正确折叠的必要条件，与人类新生儿严重呼吸窘迫症相关。（来源：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
