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中文
CRISPR/Cas9技术针对编码区域产生了25个碱基的缺失(等位基因c.108_132delAGTCCCCGACCGGGCTCCTCCGGTG)，导致了密码子插入(p.S36fsX67)的frameshift变异，进而破坏了阅读框。尽管mRNA水平大幅降低， Western blot结果显示纯合子大脑中没有检测到蛋白质。(来源：J:334013)
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 |
|---|
References Literature
Title
PMID
Journal
Year
IF
