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中文
基因内4号内含子的T到C碱基对替换会导致剪接异常，进而引发编码蛋白的翻译过早终止。定量RT-PCR结果显示，纯合子中的表达量只有野生型胚胎的不到1%。(来源：J:171522, J:185330)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
