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The transgene contains the elongation factor 1-alpha promoter, human lumican with a T to C mutation at position 596 which results in a leucine to proline substitution at amino acid 199 (L199P) with a FLAG tag, and IRES, and the humanized renilla green fluorescent protein (hrGFP). The L199P mutation was identified in an English myopic patient. (J:250674)
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
