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CRISPR/Cas9技术在基因组的第7外显子（从起始密码子位置+49,580到+49,581）产生了一个2个碱基的插入突变，导致了帧移。这个突变在Marshall-Smith综合症患者中非常常见，它引入了一个早发的终止密码子，产生了不同程度的突变蛋白。MEFs细胞表达的是突变的长型（315bp）和无第7外显子的野生型短型（194bp）基因产物。（来源：J:343087）
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
