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The human promoter was used to drive photoreceptor-specific expression of a human cDNA with a deletion of AACTT at position 790 to 794 found in patients with Stargardt-like macular dystrophy. Three lines were created (lines 1, 2, and 3) with 0.6, 3.3, and 5.3 times the level of endogenous gene expression, respectively. (J:97173)
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
