在基因Arginine的第1684位(CGT)位置,使用sgRNA(序列:CCCACCGTTCTGGGAGCTACCGC)和ssODN模板,通过CRISPR/Cas9技术将CGT替换成了Histidine(CAT),导致了c.5051G>A的变异,p.R1684H。这个变异等同于人类中与自闭症关联的c.5054G>A p.R1684H变异(来源:J:334099)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Endonuclease-mediated
单点
--
1
7
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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