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中文
通过ENU诱变产生了位点5003的T到A替换（c.5003T->A），导致了Leucine的第1668位氨基酸被终止密码子替换（p.L1668X）。这项变化通过对初级皮肤纤维母细胞的Western blot分析确实证实了没有蛋白表达（来源：J:163656）。
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
