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A loxP site was inserted into intron 13, and an FRT site flanked neomycin resistance gene cassette and a second loxP site were inserted into intron 17. Exon 17 contains nucleotide substitutions that result in the amino acid substitution of isoleucine with threonine at position 756 (p.I756T) which corresponds to the same human mutation found in patients with an X-linked retinal disorder. (J:146683)
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
