Log In|Sign Up
中文
在第15外显子中引入了一个G到A的突变，将arginine的密码子(UGC)替换为histidine的密码子(ACC)，同时在第15内含子中插入了一个由FRT序列引导的puromycin抗性基因元件。随后通过flp介导的重组去除了这个puro cassette。这种突变存在于家族性高钾血症型高血压(FHHt)患者中。(来源：J:306924)
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
