Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse.

Abstract excerpt

Mutations in the elongation of very long chain fatty acid 4 (ELOVL4) gene cause Stargardt macular dystrophy 3 (STGD3), a rare, juvenile-onset, autosomal dominant form of macular degeneration. Although several mouse models have already been generated to investigate the link between the three identified disease-causing mutations in the ELOVL4 gene, none of these models recapitulates the early-onset cone...

Topics

Join the communities discussing this publication.

• Electroretinography
• Eye Proteins
• Fatty Acids, Unsaturated
• Membrane Proteins
• Mice, Knockout