Figure 4. LCA-associated CRX frameshift mutations mimic Crx^Rip phenotype that can be rescued by Crx^WT.

(A) Alignment of mouse Crx^G255fs and the corresponding human mutation CRX^G255fs with 2 other human frameshift mutants: CRX^L237fs and CRX^P263fs. The top line corresponds to human CRX, indicating the degree of conservation between mouse and human. Conserved amino acids are indicated in red. Arrowheads indicate the position of the amino acid changed in CRX^L237fs, Crx^G255fs, CRX^G255fs, and CRX^P263fs. (B) Representative images of P21 WT mouse retinas electroporated at P0 with Ub-GFP (green), Rho-DsRed (red), and with one of the following CRX frameshift mutants: CRX^L237fs, CRX^G255fs, or CRX^P263fs. CRX was used as control. Arrows indicate GFP- and RHO-positive cells, and arrowheads indicate GFP-positive and RHO-negative cells. Scale bar: 40 μm. (C) Representative images of P21 Crx^Rip/+ mouse retinas electroporated at P0 with Ub-GFP (green), RHO-DsRed (red), and either CRX^WT or empty vector (Mock). Arrows indicate GFP- and RHO-positive cells. Scale bar: 40 μm.