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中文
在exon 21的一个C到T的单点突变预测会导致编码蛋白中V1248位点的A替换。在胚胎组织的 Western blot 检测中，检测到了少量编码蛋白，这表明这个等位基因可能是隐性的(来源：201508)
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
