Rpgr KO Mouse
Product Name
Rpgr KO Mouse
Product ID
C001823
Strain Name
C57BL/6JCya-Rpgrem1/Cya
Backgroud
C57BL/6JCya
Status
When using this mouse strain in a publication, please cite “Rpgr KO Mouse (Catalog C001823) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
Rpgr
Gene Alias
Rd9, Rp3h
NCBI ID
Chromosome
Chr X (Mouse)
MGI ID
Datasheet
Strain Description
The Retinitis Pigmentosa GTPase Regulator (RPGR) gene, located on the X chromosome (Xp11.4), is crucial for normal vision and is ubiquitously expressed across various tissues, including the retina, brain, lung, kidney, and testis. It undergoes complex alternative splicing, producing numerous isoforms, with RPGRORF15 being the major isoform predominantly expressed in photoreceptor cells of the retina [1]. The RPGR protein, which localizes to cellular structures called cilia (specifically the connecting cilium of photoreceptors, and the transition zone of other ciliated tissues), is thought to regulate protein trafficking and maintain the function of these cilia [2]. Mutations in RPGR are the most common cause of X-linked retinitis pigmentosa (XLRP), a severe inherited retinal dystrophy characterized by progressive degeneration of rod and cone photoreceptors, leading to night blindness in childhood followed by progressive vision loss and eventual blindness [3]. RPGR mutations can also lead to other retinal disorders such as X-linked cone-rod dystrophy (CORDX1) and, in some cases, syndromic presentations involving chronic respiratory and sinus infections, recurrent ear infections, and hearing loss, collectively known as primary ciliary dyskinesia (PCD) with RP, due to the widespread role of RPGR in ciliary function [1-3].
The Rpgr KO mouse is a gene knockout model created using gene-editing techniques to knock out the coding sequence of the Rpgr gene (the homolog of the human RPGR gene) in mice. This model can be used to study the pathogenic mechanisms of retinal diseases like X-linked retinitis pigmentosa (XLRP) and X-linked cone-rod dystrophy (CORDX1), providing a research basis for developing related therapeutic interventions.
Reference
Awadh Hashem S, Georgiou M, Ali RR, Michaelides M. RPGR-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy. Cold Spring Harb Perspect Med. 2023 Nov 1;13(11):a041280.
Lam BL, Scholl HPN, Doub D, Sperling M, Hashim M, Li N. A SYSTEMATIC LITERATURE REVIEW OF DISEASE PROGRESSION REPORTED IN RPGR -ASSOCIATED X-LINKED RETINITIS PIGMENTOSA. Retina. 2024 Jan 1;44(1):1-9.
Pechnikova NA, Poimenidou M, Iliadis I, Zafeiriou-Chatziefraimidou M, Iaremenko AV, Yaremenko TV, Domvri K, Yaremenko AV. Pre-Clinical and Clinical Advances in Gene Therapy of X-Linked Retinitis Pigmentosa: Hope on the Horizon. J Clin Med. 2025 Jan 29;14(3):898.
Strain Strategy
The mouse Rpgr gene in mice consists of 18 exons, with the start codon in exon 1 and the stop codon in exon 18. This strain was created by gene-editing techniques that knocked out the region spanning exons 1~18.
Figure 1. Diagram of the gene editing strategy for the generation of Rpgr KO mice.
Application Area
Research on X-linked retinitis pigmentosa (XLRP);
Research on X-linked cone-rod dystrophy (CORDX1);
Research on other retinal diseases.
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