Name: Rpgr KO Mouse
Brand: サイヤジェン（Cyagen）
SKU: C001823

Home MouseAtlas

Rpgr KO Mouse

製品名

Rpgr KO Mouse

製品ID

C001823

系統名

C57BL/6JCya-Rpgr^em1/Cya

背景情報

C57BL/6JCya

状況

このマウス系統を論文で使用する場合は、「Rpgr KO Mouse（カタログ番号C001823）はサイアジェンから購入しました。」と引用してください。

Disease Animal Models

製品タイプ

年齢

遺伝子型

性別

数量

お見積もりについてはこちらまでご連絡ください

Disease Animal Models

基本情報

検証 Data

系統詳細

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.

参考文献

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.

系統作製戦略

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.

適用分野

Research on X-linked retinitis pigmentosa (XLRP);

Research on X-linked cone-rod dystrophy (CORDX1);

Research on other retinal diseases.

検証 Data

1. Fundus morphology & OCT

Figure 2. Fundus morphology and OCT results of WT and Rpgr KO mice at 6 weeks of age.

Figure 3. Fundus morphology and OCT results of WT and Rpgr KO mice at 3 months of age.

Figure 4. Fundus morphology and OCT results of WT and Rpgr KO mice at 6 months of age.

Figure 5. Fundus morphology and OCT results of WT and Rpgr KO mice at 10 months of age.

Figure 6. Fundus morphology and OCT results of WT and Rpgr KO mice at 15 months of age.

Figure 7. OCT imaging of Rpgr KO mice at different weeks of age revealed that, similar to WT mice, most retinal layers remained relatively intact at the imaging time point. Compared to WT controls, Rpgr KO mice exhibited mild but not significant retinal thinning and progressed at a very slow rate. However, four hyper-reflective bands (ORRB1–4) were clearly distinguishable in the outer retinas of WT mice, these bands were indistinct in Rpgr KO mice. In Rpgr KO mice, the demarcation of ORRB2 progressively thickened, with complete obliteration of the boundary between ORRB2 and ORRB3 particularly beyond 6 months of age.

2. Magnified images selected from OCT results

Figure 8. Magnified images selected from OCT results of WT and Rpgr KO mice. There are four distinguishable hyper-reflective bands in the outer retina, namely outer retina reflective bands (ORRBs) 1–4, which correspond to the outer limiting membrane, ellipsoid zone (EZ), interdigitation zone (IZ), and retinal pigment epithelium (RPE)/Bruch’s membrane complex, respectively. Four hyper-reflective bands (ORRB1–4) were clearly distinguishable in the outer retinas of WT mice. However, a common band change was observed in Rpgr KO mice: the boundary between ORRB2 and ORRB3 was almost invisible and the two bands had merged by the time the mice were 6 months old.

3. Electroretinogram (ERG)

Figure 9. Electroretinogram (ERG) detection results of WT and Rpgr KO mice at 6 weeks of age. At 6 weeks of age, the amplitudes of the a-wave and b-wave in both scotopic and photopic electroretinograms (ERGs) of Rpgr KO mice were almost identical to those of WT mice.

Figure 10. Electroretinogram (ERG) detection results of WT and Rpgr KO mice at 6 months of age. By 6 months of age, the amplitudes of the a-wave and b-wave in scotopic ERG recordings of Rpgr KO mice had begun to decrease gradually.

Figure 11. Electroretinogram (ERG) detection results of WT and Rpgr KO mice at 10 months of age. By 10 months of age, the amplitudes of the a-wave and b-wave in scotopic ERG recordings of Rpgr KO mice had begun to decrease gradually.

Figure 12. Electroretinogram (ERG) detection results of WT and Rpgr KO mice at 15 months of age. By 15 months of age, the a-wave and b-wave amplitudes in the scotopic ERG recordings of Rpgr KO mice were significantly lower than in WT mice.

4. Retinal immunofluorescence staining results

Figure 13. Retinal immunofluorescence staining results of WT and Rpgr KO mice at 8 weeks of age. The retinal sections of WT and Rpgr KO mice were evaluated histologically. At 8 weeks of age, compared with WT, the retinal structure and rhodopsin & PNA protein expression in Rpgr KO mice were normal. Although retinal cell loss was not apparent in young Rpgr KO retinas, staining for retinal cell markers, which are downregulated during retinal degeneration, indicated that degenerative changes were already underway.

Figure 14. Retinal immunofluorescence staining results of WT and Rpgr KO mice at 15 months of age. In 15-month-old Rpgr KO mice, rhodopsin and PNA expression decreased dramatically, and only sparse PNA staining was visible, which was consistent with the decreased outer-segment integrity and protein stability.

Rpgr KO Mouse

基本情報

検証 Data

関連リソース

遺伝子名

遺伝子別名

NCBI ID

染色体

MGI ID

さらに

データシート

系統詳細

参考文献

系統作製戦略

適用分野

1. Fundus morphology & OCT

2. Magnified images selected from OCT results

3. Electroretinogram (ERG)

4. Retinal immunofluorescence staining results

Related Product

Resources