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中文
在第13个内含子插入了LoxP位点，随后是含FRT标记的诺卡因抗性基因座，接着是第二个LoxP位点插入到第20个内含子。在第21个外显子的c.3179T>C点突变导致了编码蛋白的I1060位点由异亮氨酸替换为苏氨酸（p.I1060T），这种变异模拟了人类尼曼-皮克病类型C1（NPC1）中常见的I1061T变异。（来源：J:221855）
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
