C57BL/6JCya-Rpgrem1/Cya
Common Name:
Rpgr-KO
Product ID:
S-KO-17577
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Rpgr-KO
Strain ID
KOCMP-19893-Rpgr-B6J-VC
Gene Name
Product ID
S-KO-17577
Gene Alias
Rd9; Rp3h
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Rpgrem1/Cya mice (Catalog S-KO-17577) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000044598
NCBI RefSeq
NM_001177950
Target Region
Exon 9
Size of Effective Region
~0.1 kb
Detailed Document
Overview of Gene Research
Rpgr, or Retinitis Pigmentosa GTPase Regulator, is a gene crucial for photoreceptor function [1,2,3,5]. It is located in photoreceptor connecting cilia and may play a role in the ciliary gate, controlling access of membrane and soluble proteins to the photoreceptor outer segment [3]. Mutations in Rpgr are the most common cause of X-linked retinitis pigmentosa (XLRP), accounting for 10%-20% of all retinitis pigmentosa (RP) cases [1,2,3,5].
In Rpgr knockout (KO) mice, photoreceptor degeneration occurs due to autophagy impairment in the retina [4]. Adeno-associated virus-mediated transfer of pre-trans-splicing molecules can rescue the retinopathy phenotypes in Rpgr KO retinas by re-expressing normal Rpgr mRNAs via trans-splicing, upregulating autophagy, and restoring retinal homeostasis [4].
In conclusion, Rpgr is essential for maintaining normal photoreceptor function and retinal homeostasis. The Rpgr KO mouse model has been valuable in revealing its role in autophagy regulation and photoreceptor degeneration, which is relevant to understanding XLRP and developing potential gene replacement therapies [4].
References：
1. Cehajic Kapetanovic, Jasmina, McClements, Michelle E, Martinez-Fernandez de la Camara, Cristina, MacLaren, Robert E. 2019. Molecular Strategies for RPGR Gene Therapy. In Genes, 10, . doi:10.3390/genes10090674. https://pubmed.ncbi.nlm.nih.gov/31487940/
2. Awadh Hashem, Shaima, Georgiou, Michalis, Ali, Robin R, Michaelides, Michel. 2023. RPGR-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy. In Cold Spring Harbor perspectives in medicine, 13, . doi:10.1101/cshperspect.a041280. https://pubmed.ncbi.nlm.nih.gov/37188525/
3. Megaw, Roly D, Soares, Dinesh C, Wright, Alan F. 2015. RPGR: Its role in photoreceptor physiology, human disease, and future therapies. In Experimental eye research, 138, 32-41. doi:10.1016/j.exer.2015.06.007. https://pubmed.ncbi.nlm.nih.gov/26093275/
4. Ying, Ruhong, Li, Cong, Li, Huirong, Cheng, Hanhua, Zhou, Rongjia. 2024. RPGR is a guanine nucleotide exchange factor for the small GTPase RAB37 required for retinal function via autophagy regulation. In Cell reports, 43, 114010. doi:10.1016/j.celrep.2024.114010. https://pubmed.ncbi.nlm.nih.gov/38536817/
5. Tee, James J L, Smith, Alexander J, Hardcastle, Alison J, Michaelides, Michel. 2016. RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options. In The British journal of ophthalmology, 100, 1022-7. doi:10.1136/bjophthalmol-2015-307698. https://pubmed.ncbi.nlm.nih.gov/26843488/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen