通过sgRNA和ssODN模板,利用CRISPR/Cas9技术将arginine的87位密码子(CGC)替换为 cysteine( TGC),产生了c.259C>T的变异,即p.R87C。这个变异等同于人类West syndrome关联的p.Arg87Cys突变(引用:J:335442)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Endonuclease-mediated
单点
--
1
2
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
No Data Found!
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