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中文
CRISPR/Cas9技术在exon 4产生了一种CGG到TGA的变异，导致了氨基酸294位置的arginine替换为X（p.R294X）。这种变异在Rett综合症的人类中很常见。免疫印迹检测到了一个45 kDa的截断产物。（来源：J:296009）
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
