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The mitochondria-targeted self-complementary adeno-associated virus (AAV) transgene contained the human mitochondrial heavy-strand promoter driving mitochondrial expression of the FLAG tagged human mt-ND4 with the substitution of A for G taht results in an arginine-to-histidine substitution and mitochondrial mCherry with the substitution A for C. This mutation is responsible for Leber hereditary optic neuropathy (LHON). There are two stop codons between the genes. The pound symbol (#) is used when no line is specified and/or lines are pooled. (J:224897)
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
