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EN
A loxP site flanked neomycin resistance gene cassette was inserted into intron 8 and an exon 9 was modified to change arginine codon 345 (CGA) to tryptophan (TGG) (p.R345W). The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the same human mutation associated with age-related macular degeneration (AMD). mRNA is expressed at levels equal to wild-type and protein levels in the eyes are similar to wild-type. (J:129901)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
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
