Article
Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation.
The Journal of biological chemistry - 5 Mar 2010
Edwards Malia M, Mammadova-Bach Elmina, Alpy Fabien, Klein Annick, Hicks Wanda L, Roux Michel, Simon-Assmann Patricia, Smith Richard S, Orend Gertraud, Wu Jiang, Peachey Neal S, Naggert Jürgen K, Lefebvre Olivier, Nishina Patsy M
Abstract excerpt
The Neuromutagenesis Facility at the Jackson Laboratory generated a mouse model of retinal vasculopathy, nmf223, which is characterized clinically by vitreal fibroplasia and vessel tortuosity. nmf223 homozygotes also have reduced electroretinogram responses, which are coupled histologically with a thinning of the inner nuclear layer. The nmf223 locus was mapped to chromosome 17, and a missense mutation was...
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