这个启动子被用来驱动人类cDNA的普适表达,该cDNA在杜氏型进行性肌营养不良(DYT1型肌萎缩)患者中发现有一个3个碱基的缺失(ΔGAG)。我们建立了两条克隆线(hMT1和hMT2),它们的表达水平分别增加了2倍和1.2倍。(来源:J:98716)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C57BL/6 x C3H)F1
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1
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8

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
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