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The transgene is composed of BAC clone RP11-1107F3 containing the 38 kb-human OPTN locus with about 160 kb of 5 sequence containing the E50K mutation in the middle (GAG to AAG) and a fragment containing the internal ribosome entry site-enhanced green fluorescent protein. Two lines were established, 1 and 2. Line 1 shows overexpression of the gene but line 2 does not. Quantitative rtPCR and immunoblot analysis confirmed mRNA expression and protein expression in the retina. (J:222642)
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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References Literature
Title
PMID
Journal
Year
IF
