Rdh12-KO Mouse
Product Name
Rdh12-KO Mouse
Product ID
C001884
Strain Name
C57BL/6JCya-Rdh12em1/Cya
Backgroud
C57BL/6JCya
Status
When using this mouse strain in a publication, please cite “Rdh12-KO Mouse (Catalog C001884) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
Rdh12
Gene Alias
--
NCBI ID
Chromosome
Chr 12 (Mouse)
MGI ID
Datasheet
Strain Description
Rdh12, also known as Retinol dehydrogenase 12, is an NADPH-dependent retinal reductase that is mainly expressed in the inner segments of photoreceptor cells. Rdh12 plays a crucial role in the visual cycle, which is a series of enzymatic reactions essential for the regeneration of visual pigments and is involved in the detoxification process of retinal aldehyde. Mutations in Rdh12 can lead to the degeneration of retinal photoreceptor cells, thereby affecting visual function. The mutations cause a decrease or loss of enzymatic activity in the retina, which in turn affects the progress of the visual cycle and hinders the regeneration of visual pigments. In addition, the mutations may also lead to the accumulation of retinal aldehyde, further damaging the retinal photoreceptor cells [1]. These factors act together, resulting in the degeneration of retinal photoreceptor cells and the loss of visual function. Mutations in Rdh12 are associated with Leber congenital amaurosis (LCA) and autosomal dominant retinitis pigmentosa (RP) [2].
The Rdh12-KO mouse is a knockout (KO) model in which exons 2-5 of the Rdh12 gene in mice are knocked out using gene-editing technology. This model can be used for the research on the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and autosomal dominant retinitis pigmentosa (RP) and the development of related treatment methods.
Reference
Fahim AT, Thompson DA. Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration. Adv Exp Med Biol. 2019;1185:209-213.
Jin J, Liang L, Jin K, Zhang HJ, Liu R, Shen Y. Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations. Brain Topogr. 2022 Jul;35(4):525-535.
Strain Strategy
The mouse Rdh12 gene contains 7 exons. The ATG start codon is located in exon 1, and the TAG stop codon is located in exon 7. In this strain, the regions of exons 2-5 were knocked out using gene-editing technology.
Figure 1. Diagram of the gene editing strategy for the generation of Rdh12-KO mice.
Application Area
Research on Leber congenital amaurosis (LCA);
Research on autosomal dominant retinitis pigmentosa (RP).
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