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中文
在exon 5的第284位， cysteine(CTG)被替换成了arginine(AGT)，这个变异用sgRNA(靶向GAAGACGATGGGTATACAGTCGG)和ssODN模板通过CRISPR/Cas9技术实现，表现为与早发型克罗恩病(CD)、强直性脊柱炎、系统性幼年特发性关节炎以及高患白内障风险相关的同一种人类突变(SNP)(来源：J:339910)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
