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Exon 14 was replaced with a loxP site and a modified exon 14 in which a C to G transversion results in the amino acid substitution of arginine for serine at position 163 (S163R). An FRT-flanked neo cassette with a 3' loxP site was inserted downstream of the modified exon 14. This mutation is found in Late-Onset Retinal Macular Degeneration (L-ORMD) patients. Flp-mediated recombination removed the neo cassette. (J:180961)
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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References Literature
Title
PMID
Journal
Year
IF
