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中文
Exons 14和15，编码蛋白质的大部分C2C区域，已经被删除。对纯合突变小鼠耳蜗的RT-PCR分析证实了存在一个缺失删除编码区域的mRNA。翻译这个mRNA会形成移框，导致提前终止密码子；通过免疫组化和免疫印迹分析，我们证明了纯合突变小鼠耳蜗中未检测到预期的截短蛋白。(来源：J:116097)
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
