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中文
这个启动子被用来驱动人类cDNA的特异性表达，该cDNA含有导致第392位氨基酸由甘氨酸替换为谷氨酸（G392E）的核苷酸变异。这种突变最初在家族性神经丝蛋白内包涵体病（FENIB）患者中发现。创建了三条线，编号为333、42和115，其中333线的表达量远高于42和115线。（来源：J:144649）
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
