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中文
在第2367位插入一个C残基的框架移位突变被识别出来。这种突变引入了一个早发的终止密码子，导致预测编码蛋白的三分之一被截断。在突变性视网膜中观察到的表达转录水平显著降低，可能是因为编码蛋白的缺失。(来源：J:112267)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
