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中文
CRISPR/Cas9技术通过在第4外显子的第533位Arg(533*)位置，替换两个碱基(从T变为A导致终止密码子，而C替换为T影响7个碱基上游的XmaI酶切位点)，改变了编码序列，使其成为终止密码子。这种变异与患者中与自闭症谱系障碍关联的R536*变异相匹配。(引用：J:300704)
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
