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中文
第五外显子被替换为一个含有A到G突变的序列，导致第304位的His被Arg替换（H304R），这与人类中Charcot-Marie-Tooth类型2O患者所见的H306R变异相同。在5-6号内含子中插入了一条FRT引导的诺卡因抗性基因座，通过Flp介导的重组被移除。 Western blot实验确认了蛋白的表达。（来源：J:264493）
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
