Log In|Sign Up
中文
CRISPR/Cas9技术在第178位产生了一个C到T的点突变，导致了氨基酸60位的 cysteine 变为 arginine。为避开引导序列的识别，加入了九个无义核苷酸的改变，创建了一个ScaI限制性酶切位点。这种突变出现在2型常染色体显性低钙血症患者中。这项变异已经在三个独立的系中得到了生成。(来源：J:280180)
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
