Log In|Sign Up
中文
在第六外显子上游插入了一个FRT-flanked pgk-neo cassette，然后通过同源重组插入了第六外显子的拷贝，其中547位点的G被替换为A，导致第182位氨基酸由G变为R。通过Flp介导的重组去除了pgk-neo cassette。第六外显子的这个变异与人类血管型埃勒斯-丹洛斯综合症患者中常见致病遗传变异的COL3A1类型相似。(来源：J:330320)
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
