Figure 5

TEM (Transmission electron microscopy) sections of WT and Fam161a^tm1b/tm1b retina. (a) Representative retina of WT at 1 month. (b) Representative retina of Fam161a^tm1b/tm1b at 1 month. The two solid lines indicate the extension of the RPE cells. The dashed lines indicate the apical surface of the epithelium from which the microvilli-like extensions extend towards the photoreceptor outer segments. Black asterisk indicate engulfed disk stacks released from outer segments. RPE-Retinal pigment epithelium, OS-Outer segment, IS-Inner segment. Scale bars: 10 µm. (c,d) Photoreceptor morphology of 1 month-old WT (c) and Fam161a^tm1b/tm1b (d) mice. A schematic drawing of the cell is presented on the top right on panel c. CC-connecting cilium (marked in black line), BB-basal body, Ce-adjacent centriole. Scale bars: 1 µm. Note that in the Fam161a^tm1b/tm1b photoreceptor outer segment disks are disorganized in a perpendicular orientation and the CC is shortened (marked in black line). (e) Photoreceptor morphology of a 1-month-old Fam161a^tm1b/tm1b mouse. Outer segment base is widened and microtubules spread in their upper part (double headed arrow). Outer segment disks are growing from the middle of the CC (arrowheads). A schematic drawing of the cell is presented on the top right. Scale bars: 1 µm. (f) Connecting cilium length analysis. Comparative analysis of WT CC length and Fam161a^tm1b/tm1b CC length (*P < 0.005, error bars represent SD).