人类启动子被用来驱动在患有与Stargardt类似视网膜病变的患者中发现的790至794位点缺失AACTT的人类cDNA的视网膜特异性表达。通过这个,三条线被建立(线1、2和3),它们的内源基因表达水平分别是原基的0.6、3.3和5.3倍。(来源:J:97173)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6
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1
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3

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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