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中文
由于一个A到T的转换，这个等位基因在leucine-zipper区域的第384位有丝氨酸替换为缬氨酸的突变。Northern印迹显示在造血组织中mRNA的表达水平正常，但转活实验表明其蛋白活性相较于野生型显著降低。(来源：J:89601)
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
