Phenotype Image Detail

Image

Caption

Clinical and morphological assessment of Lca5^{Gt(AG0283)Wtsi}/Lca5^{Gt(AG0283)Wtsi} (Lca5^gt/gt) mouse retina. (C) Progressive retinal degeneration demonstrated in mutant mice. Retinal sections of mutant mice and wild-type (WT) controls, between P12 and 4 months of age, stained with hematoxylin and eosin. At P12, the outer segment/inner segment (OS/IS) layers were remarkably thinner in mutant animals, whereas the outer nuclear layer (ONL) and inner nuclear layer (INL) were comparable to those of controls. At P28, the photoreceptor nuclei in the ONL were significantly reduced compared with controls. By 4 months of age, the photoreceptor layer was completely absent in mutant mice. Scale bar: 50 um (C). (D) Scanning EM of control and mutant retinas at P10 and P15 from a scleral orientation (left) and fractured view (right). Control OSs at P10 were ovoid and regular in size. Vertically stacked OS discs (double asterisks) were rarely observed. OSs in mutant retinas were shorter and irregular in size and shape. By P15, OS discs were disorganized and did not reach the length observed in controls. Most OSs were rudimentary or abnormal in shape (asterisk). Scale bar: 10 um (D). (E) Transmission EM of mutant retinas showed that the structure of the connecting cilium (CC), including basal body, was preserved at P8. RPE, retinal pigment epithelium; NC, nascent cilia. Scale bar: 500 nm (E).

Copyright

This image is from Boldt K, J Clin Invest 2011 Jun 1;121(6):2169-80 and is displayed with the permission of the American Society for Clinical Investigation who owns the Copyright. J:174018

Associated Alleles

Symbol	Name
Lca5^Gt(AG0283)Wtsi	Leber congenital amaurosis 5 (human); gene trap AG0283, Wellcome Trust Sanger Institute

Associated Genotypes

Allelic Composition	Genetic Background
Lca5^Gt(AG0283)Wtsi/Lca5^Gt(AG0283)Wtsi	involves: 129P2/OlaHsd * C57BL/6