Gt(ROSA)26Sor^{tm1.1(CAG-ATP1A3*D591V,-EGFP)Bcgen}

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)