ArticleHuman molecular genetics2025
Generation of a compound heterozygous ABCA4 rat model with pathological features of STGD1.
Article in Human molecular genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids.Stem cells (Dayton, Ohio) · 2026Article
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14 authors.
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Abstract
The ABCA4 protein plays an essential role in mammalian vision, ensuring the correct localization of all-trans-retinal within the visual cycle. Mutations in the ABCA4 gene are responsible for the juvenile maculopathy, Stargardt disease (STGD1). We investigated the most common variant underlying STGD1 phenotype in a rat model carrying the ortholog to the human c.5882G > A/p.(Gly1961Glu) (G1961E) in ABCA4. While the pathogenicity of this variant has recently been questioned, we examine here whether the ortholog rat variant is associated with vitamin A toxicity in the retina. By crossing the rat line with a rat line deficient in ABCA4 protein, we reveal a more pathogenic phenotype in line with compound heterozygosity, making the model suitable for testing of gene, cell and pharmacological therapies.
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