Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases.
Document Type
Article
Publication Date
2005
Keywords
Brain-Diseases, Disease-Models-Animal, Exons, Eye-Abnormalities, Eye-Diseases, Mice, Mice-Mutant-Strains, Muscular-Diseases, N-Acetylglucosaminyltransferases
First Page
160
Last Page
172
JAX Source
Mol Cell Neurosci 2005 Oct; 30(2):160-72.
Abstract
Here we demonstrate previously unreported ocular defects in mice homozygous for a new allele of the Large gene, veils, and for Large(myd) mice. Clinically, vitreal fibroplasia and retinal vessel tortuosity and fluorescein leakage are observed. These vascular defects may be due to the extreme disorganization of the astrocytic template on which endothelial cells migrate in the retina. Abnormal electroretinograms recorded from Large(vls) or Large(myd) mice are accompanied by disorganization of the outer plexiform layer (OPL) with a dramatic reduction in the number of synaptic complexes. In both mutants, the internal limiting membrane (ILM) is disrupted with ectopic cells in the vitreous. Interestingly, while all components of the dystrophin glycoprotein complex are present at reduced levels in the OPL, they were absent in the ILM of affected mice. Finally, hypoglycosylation of alpha-dystroglycan previously implicated in muscle and brain defects is also observed in the retina and may contribute to the ocular abnormalities.
Recommended Citation
Lee Y,
Kameya S,
Cox GA,
Hsu J,
Hicks W,
Maddatu TP,
Smith RS,
Naggert JK,
Peachey NS,
Nishina PM.
Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol Cell Neurosci 2005 Oct; 30(2):160-72.