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中文
Exon 2被设计了一个G>A的点突变，随后插入了抗氨苄青霉素的耐药基因座，位于内含子2。这个突变导致99位的丝氨酸变为天冬氨酸（p.Ser99Asp），这模拟了人类多发性骨连结融合症（SYNS）患者中发现的突变。RT-qPCR结果显示，这个等位基因的表达水平与野生型相当。（来源：J:241783）
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
