在第3外显子的丝氨酸密码子919(ACG)被替换为天冬氨酸(GAT),即位点p.T919D;而在第3外显子的天冬酰胺密码子922(AAC)被替换为异亮氨酸(GCC),对应位点p.N922A。这些改变通过设计的sgRNA(靶向CGTGTGTAACATATGCGGGC)和ssODN模板,利用CRISPR/Cas9技术实现。这些变异影响了编码肽中C2H2锌指簇4(ZFC4)的AT结合锌指区域。(来源:J:303180)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Endonuclease-mediated
核苷酸替换
--
1
5
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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