Log In|Sign Up
中文
这个基因的异常剪接产生了两种突变转录本。主要剪接产物在第七外显子的5'端缺失了54bp，导致DNA结合域(ldb)编码18个aa。次要剪接产物在同样位置5'端缺失34bp，并包含6个内含子6的33bp，从而在ldb上游产生了一个框架移位突变。第六和第七外显子的剪接接受和捐赠位点的突变未检测到。(来源：J:85194)
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
