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. Author manuscript; available in PMC: 2020 Apr 1.
Published in final edited form as: Hum Mutat. 2019 Jan 25;40(4):426–443. doi: 10.1002/humu.23706

Figure 6.

Figure 6.

Expression level of the mutant RPE65 is greatly reduced in the KI/KI mice. (A) western blot analysis shows the RPE65 expression level in 7-month-old KI/KI mice is less than 3% of the age-matched WT siblings. Asterisks denote the differences are statistically significant with p<0.05 analyzed by student’s t-test; n=3. (B) immunostaining of the mouse eye cup frozen sections shows minimal expression of the mutant RPE65 protein in the KI/KI mouse. Arrowheads denote the position for RPE layer. (C) Despite the low RPE65 expression, integrity of the retinal outer segment layer remained intact in the KI/KI mice, as demonstrated by actin (green) and WGA (red) staining. On the other hand, while the majority of the short-wave opsin (OPN1SW) is localized at the outer segment in the KI/KI mice, as seen in the WT, we consistently observe a small yet persistent mislocalization of the OPN1SW near the basal side of the outer nuclear layer (indicated by white arrowhead). Scale bar=50 μm. ONL: outer nuclear layer; OS: outer segment; and IS: inner segment.