C57BL/6JCya-Rp1l1em1flox/Cya
Common Name
Rp1l1-flox
Product ID
S-CKO-09930
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-271209-Rp1l1-B6J-VA
Status
When using this mouse strain in a publication, please cite “Rp1l1-flox Mouse (Catalog S-CKO-09930) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Rp1l1-flox
Strain ID
CKOCMP-271209-Rp1l1-B6J-VA
Gene Name
Product ID
S-CKO-09930
Gene Alias
Dcdc4, Rp1hl1
Background
C57BL/6JCya
Gene Full Name
retinitis pigmentosa 1 homolog like 1
Modification
Conditional knockout
NCBI ID
Phenotype
Chromosome
Chr 14 (Mouse)
Application
--
Datasheet
Strain Description
Ensembl Transcript ID
ENSMUST00000058229
NCBI Transcript ID
NM_146246
Target Region
Exon 3
Size of Effective Region
~2.1 kb
Overview of Gene Research
Rp1l1, short for Retinitis pigmentosa 1-like 1, is a component of the photoreceptor cilium. Although its exact function remains unknown, it is crucial in photoreceptor biology [1,2]. The photoreceptor cilium is involved in vital processes related to vision, suggesting that Rp1l1 may participate in pathways related to maintaining normal photoreceptor function and thus normal vision.
Pathogenic variants in Rp1l1 lead to photoreceptor diseases. It has been associated with occult macular dystrophy (a cone-degeneration disorder) and retinitis pigmentosa (a rod-degeneration disorder) [1,2]. In a study of 1204 Japanese patients with retinitis pigmentosa, Rp1l1 variants were among the six genes that caused the disease in a significant proportion of patients [3]. Inherited eye diseases research in a Chinese cohort found that RP1L1 had a diagnostic yield of de novo mutations of 5.88% [4]. A case report of an Indian patient with a homozygous variant in Rp1l1 presented with RP1L1 maculopathy, showing ill-defined foveal mottling, sub-foveal hyper-reflective deposits, and outer retinal layer disruption [5]. Another study on early age-related macular degeneration found an association between RP1L1 rs3924612 polymorphism and the early development of AMD, especially in females and the 56-68-year-old age group [6]. In patients with macular and cone/cone-rod dystrophy, mutations in Rp1l1 were identified, contributing to the understanding of the genetic causes of these diseases [7]. In RP1L1-associated occult macular dystrophy, the disease was characterized by deterioration of L-and M-cone-driven function in the perifovea [8]. In Taiwanese patients with inherited retinal degeneration, RP1L1 was among the genes where variants led patients to seek medical help earlier [9]. A Chinese family was identified with a maculopathy case caused by new recessive compound heterozygous variants of Rp1l1, expanding the understanding of its phenotype and genotype [10].
In conclusion, Rp1l1 is essential for photoreceptor biology, and its variants are strongly associated with various photoreceptor-related diseases such as retinitis pigmentosa, occult macular dystrophy, and maculopathy. Research on Rp1l1 provides insights into the genetic mechanisms underlying these eye diseases, which may help in developing targeted diagnostic and therapeutic strategies for inherited retinal disorders.
References：
1. Noel, Nicole C L, MacDonald, Ian M. 2020. RP1L1 and inherited photoreceptor disease: A review. In Survey of ophthalmology, 65, 725-739. doi:10.1016/j.survophthal.2020.04.005. https://pubmed.ncbi.nlm.nih.gov/32360662/
2. Liu, Jiali, Hayden, Melvin R, Yang, Ying. 2024. Research progress of RP1L1 gene in disease. In Gene, 912, 148367. doi:10.1016/j.gene.2024.148367. https://pubmed.ncbi.nlm.nih.gov/38485037/
3. Koyanagi, Yoshito, Akiyama, Masato, Nishiguchi, Koji M, Kubo, Michiaki, Sonoda, Koh-Hei. 2019. Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. In Journal of medical genetics, 56, 662-670. doi:10.1136/jmedgenet-2018-105691. https://pubmed.ncbi.nlm.nih.gov/31213501/
4. Li, Wei, He, Xiang-Dong, Yang, Zheng-Tao, Li, Jian-Kang, He, Wei. . De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases. In Investigative ophthalmology & visual science, 64, 5. doi:10.1167/iovs.64.2.5. https://pubmed.ncbi.nlm.nih.gov/36729443/
5. Manayath, George J, Rokdey, Mayur, Verghese, Shishir, Saravanan, V R, Narendran, Venkatapathy. 2021. An extended phenotype of RP1L1 maculopathy - case report. In Ophthalmic genetics, 43, 392-399. doi:10.1080/13816810.2021.2021426. https://pubmed.ncbi.nlm.nih.gov/34965838/
6. Daniute, Ginte, Vilkeviciute, Alvita, Gedvilaite, Greta, Kriauciuniene, Loresa, Liutkeviciene, Rasa. 2021. RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration. In Ophthalmic genetics, 43, 164-171. doi:10.1080/13816810.2021.2010770. https://pubmed.ncbi.nlm.nih.gov/34865606/
7. Birtel, Johannes, Eisenberger, Tobias, Gliem, Martin, Bolz, Hanno J, Charbel Issa, Peter. 2018. Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. In Scientific reports, 8, 4824. doi:10.1038/s41598-018-22096-0. https://pubmed.ncbi.nlm.nih.gov/29555955/
8. Huchzermeyer, Cord, Fars, Julien, Kremers, Jan, Stingl, Krunoslav, Stingl, Katarina. . Photoreceptor-Specific Temporal Contrast Sensitivities in RP1L1-Associated Occult Macular Dystrophy. In Investigative ophthalmology & visual science, 64, 33. doi:10.1167/iovs.64.7.33. https://pubmed.ncbi.nlm.nih.gov/37342031/
9. Chen, Ta-Ching, Huang, Ding-Siang, Lin, Chao-Wen, Hu, Fung-Rong, Chen, Pei-Lung. 2021. Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan. In NPJ genomic medicine, 6, 16. doi:10.1038/s41525-021-00180-1. https://pubmed.ncbi.nlm.nih.gov/33608557/
10. Cao, Wen-Chao, Chen, Qing-Shan, Gan, Run, Huang, Tao, Yan, Xiao-He. 2024. New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy. In International journal of ophthalmology, 17, 107-112. doi:10.18240/ijo.2024.01.14. https://pubmed.ncbi.nlm.nih.gov/38239955/
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
Contact Us
Connect with our experts for your custom animal model needs. Please fill out the form below to start a conversation or request a quote.
Cyagen values your privacy. We’d like to keep you informed about our latest offerings and insights. Your preferences:
You may unsubscribe from these communications at any time. See our Privacy Policy for details on opting out and data protection.
By clicking the button below, you consent to allow Cyagen to store and process the personal information submitted in this form to provide you the content requested.
