在exon 2的Proline第195位(CCT)被替换为Alanine(GCT),通过sgRNA和ssODN模板,使用了CRISPR/Cas9技术。这个突变等同于人类的p.P193A变异,与Aicardi-Goutieres综合症(AGS)相关(来源:J:338600)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
单点
--
1
4
2

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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