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The targeting vector inserted a CAG promoter, loxP site, FRT-flanked neo-STOP cassette, Tet-responsive element 3G (tetO), loxP site, ATP1A3 cDNA containing an aspartate to valine substitution at amino acid 591 (p.D591V; c.1772A>T), IRES, EGFP, WPRE, and polyA into the locus. The floxed neo-STOP and tetO were removed via cre-mediated recombination resulting in expression of the mutant protein and EGFP. The p.D591V missense mutation is a novel variant identified in a family with cone-rod dystrophy. (J:319361)
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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References Literature
Title
PMID
Journal
Year
IF
