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中文
在第1外显子被替换为经过修改的第1外显子，其中的核苷酸变异导致第8位的氨基酸由Leucine替换为Arginine(即R8L)。下游插入了一个敲除neo cassette。这是一种部分功能减弱的等位基因。通过 Western Blot 实验确认了蛋白质表达量的减少。(来源：J:175265)
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
