Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4

@article{McMahon2007RetinalPA,
  title={Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4},
  author={Anne McMahon and Igor A. Butovich and Nathan L. Mata and Martin Klein and Robert Ritter and J. A. Richardson and David G. Birch and Albert O. Edwards and Wojciech Kedzierski},
  journal={Molecular Vision},
  year={2007},
  volume={13},
  pages={258 - 272}
}
PURPOSE Autosomal dominant Stargardt disease-3 (STGD3) is caused by mutations in elongase of very long chain fatty acids-4 (ELOVL4). The goal of this study was to generate and characterize heterozygous and homozygous knockin-mice that carry a human STGD3 pathogenic mutation in the mouse Elovl4 gene. METHODS Recombinant Stgd3-knockin mice were generated using a DNA construct which introduced a pathogenic five-base pair deletion and two point mutations in exon 6 of the Elovl4 gene. Stgd3-mouse… CONTINUE READING

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