CRISPR/Cas9基因编辑通过gRNA和供体寡核苷酸,产生了一个C到T的突变(c.274C>T),将arginine的密码子92替换为tryptophan的密码子(p.R92W)。这个突变模拟了46,XX性发育性别分化异常(DSD)患者中发现的特定变异(来源:J:277036)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6D2F1
Endonuclease-mediated
单点
--
1
12
1

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:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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