在exon 2的GAG密码子位置50被替换为lysine(AAG),通过sgRNA和ssODN模板,使用了CRISPR/Cas9技术。这种在编码肽的EMO(NF kappa B必需调节因子)区域的变异,复制了与正常眼压青光眼(NTG)相关的人类正常变异(J:303304)。

Basic Information

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