Gradual photoreceptor loss in homozygous <i>Clcn2</i>^{<i>nmf289</i>} mutants.

<p>(A) Fundus imaging of homozygous <i>Clcn2</i>^{<i>nmf289</i>} (<i>nmf289</i>) mice at 3 months of age indicates vascular atrophy compared to WT littermate controls. (B) Brightfield images of H&E-stained retinal sections of WT or heterozygous littermate controls at P14 (n = 5) and 1 month (n = 3) of age, and homozygous <i>Clcn2</i>^{<i>nmf289</i>} at P14 (n = 3) and at 1 month (n = 3) of age. Compound heterozygous <i>Clcn2</i>^{<i>nmf289</i>}<i>/Clcn2</i>^{<i>nmf240</i>} (<i>nmf289/nmf240</i>) mice at P14 (n = 6) show similar ONL loss. Retinal layers are labeled as in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0183837#pone.0183837.g001" target="_blank">Fig 1B</a>. <i>Bar</i>, 20 μm. (C) Dark-adapted ERG series obtained from WT littermate control (<i>left</i>; n = 3) and homozygous and <i>Clcn2</i>^{<i>nmf289</i>} (<i>right</i>; n = 5) mice at 1 month of age (<i>left</i> to <i>right</i>). D. Immunostaining with anti-ezrin antibody shows elongated apical microvilli in homozygous <i>Clcn2</i>^{<i>nmf289</i>} mice (<i>bottom</i>; n = 3) compared to WT littermates (<i>top</i>; n = 3) at P14. <i>Bar</i>, 10 μm.