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EN
Exon 3 was replaced with a loxP-flanked exon 3 in which an A to T missense change at position 60 was introduced in exon 3, resulting in a leucine to phenylalanine substitution at amino acid 20 (L20F). An FRT-flanked neomycin selection cassette that was inserted upstream of exon 3 was removed via Flp-mediated recombination. The L20F substitution segregated in a family with Duane retraction syndrome. (J:243785)
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
