Rdh8-KO Mouse
Product Name
Rdh8-KO Mouse
Product ID
C001969
Strain Name
C57BL/6JCya-Rdh8em1/Cya
Backgroud
C57BL/6JCya
Status
When using this mouse strain in a publication, please cite “Rdh8-KO Mouse (Catalog C001969) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
Gene Alias
Gm182, prRDH
NCBI ID
Chromosome
Chr 9
MGI ID
Datasheet
Strain Description
The RDH8 gene encodes a member of the short-chain dehydrogenase/reductase (SDR) family known as retinol dehydrogenase 8 (or photoreceptor-specific all-trans-retinol dehydrogenase). This protein is primarily expressed in the retina, specifically localized to the outer segments of rod and cone photoreceptor cells, where it acts as the major dehydrogenase responsible for clearing all-trans-retinal. Its primary function is to catalyze the NADPH-dependent reduction of all-trans-retinal to all-trans-retinol, a critical and rate-limiting step in the visual (retinoid) cycle that prevents the accumulation of toxic retinal aldehydes [1]. While RDH8 works alongside RDH12 and ABCA4 to maintain retinal health, its dysfunction is significantly linked to Stargardt macular dystrophy (specifically STGD5) and Age-Related Macular Degeneration (AMD). Recent clinical research has identified specific biallelic splicing variants in RDH8 that lead to progressive macular atrophy, and studies in Abca4-/-Rdh8-/- animal models continue to reveal how the failure of this gene triggers inflammatory stress responses and ferroptosis (a type of programmed cell death) in the neural retina [2].
Rdh8-KO mice are a gene knockout (KO) model in which exons 1-6 of the Rdh8 gene in mice have been knocked out using gene-editing technology. This model can be used to study the pathogenic mechanisms of diseases such as Stargardt macular dystrophy type 5 (STGD5) and age-related macular degeneration (AMD), as well as for the development of relevant treatment methods.
Reference
Zampatti S, Peconi C, Calvino G, Ferese R, Gambardella S, Cascella R, Sebastiani J, Falsini B, Cusumano A, Giardina E. A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy. Genes (Basel). 2023 Aug 21;14(8):1659.
Chen C, Chen J, Wang Y, Liu Z, Wu Y. Ferroptosis drives photoreceptor degeneration in mice with defects in all-trans-retinal clearance. J Biol Chem. 2021 Jan-Jun;296:100187.
Strain Strategy
The mouse Rdh8 gene contains 6 exons. The ATG start codon is located in exon 1, and the TGA stop codon is located in exon 6. In this strain, the region of exons 1-6 has been knocked out using gene editing technology.
Figure 1. Diagram of the gene editing strategy for the generation of Rdh8-KO mice.
Application Area
Research on the pathogenic mechanism and related treatment methods of Stargardt macular dystrophy type 5 (STGD5);
Research on the pathogenic mechanism and related treatment methods of age-related macular degeneration (AMD).
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