通过CRISPR/Cas9技术,使用sgRNA5'-CTCTTTGCAGGTCCATCGGC-3'和一个121bp的单链脱氧核糖核酸模板,产生了一个c.1580A>G的点突变,将His527的histidine密码子替换为Arg的arginine密码子(p.His527Arg)。这个突变模拟了部分人类家族性Wolff-Parkinson-White(WPW)综合症患者中发现的p.His530Arg变异(来源:J:278059)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
单点
--
1
6
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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