Phenotype Image Detail

Image

Caption

Clinical and functional assessment of Lca5^{Gt(AG0283)Wtsi}/Lca5^{Gt(AG0283)Wtsi} (Lca5^gt/gt) mice. (A) Outer segment (OS) development is defective in mutant retinas. Transmission EM of control and mutant retina at P9 and P13. The initiation of OS in mutant mice is delayed and OS are shorter than in wild-type controls. OS of mutant mice are disorganized and discs appear to be oriented improperly (arrows) when compared to control OS. The structure of the connecting cilium (CC) in mutant mice appears to be normal. Bars = 500 nm, and 100 nm. (B) In mutant retina, the localization of Rp1, an axoneme marker, is comparable to controls. The number of stained basal bodies (anti-gamma-tubulin, TUB) in mutant Lca5 retina is similar to controls but dispersed over the inner segment (IS). Bar = 10 um. (C) The localization of ciliary disease gene products, Nphp4 and Rpgrip1 is not altered in mutant retina. Retinal sections were obtained at P14. OS: outer segment, IS: inner segment, ONL: outer nuclear layer, CC: connecting cilium, BB: basal body. Bar = 10 um.

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