C57BL/6JCya-Rab28em1flox/Cya
Common Name:
Rab28-flox
Product ID:
S-CKO-00183
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Rab28-flox
Strain ID
CKOCMP-100972-Rab28-B6J-VA
Gene Name
Product ID
S-CKO-00183
Gene Alias
2700023P08Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
5
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Rab28em1flox/Cya mice (Catalog S-CKO-00183) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000031011
NCBI RefSeq
NM_027295
Target Region
Exon 2
Size of Effective Region
~1.4 kb
Detailed Document
Overview of Gene Research
Rab28, a member of the RAS oncogene family, is a farnesylated, small GTPase. It is involved in multiple cellular processes. In the retina, it plays a crucial role in outer segment phagocytosis (OSP) and the visual cycle. It is also associated with ciliary function, as it negatively regulates extracellular vesicle shedding in cilia [2]. In addition, Rab28 is involved in GLUT4 trafficking in muscle cells and adipocytes, and may participate in NF-κB nuclear transport in endothelial cells [3,6]. Zebrafish and mouse models have been valuable for studying Rab28 [1,4,5,7].
In gene-knockout models, Rab28-deficient zebrafish show defective outer segment shedding in cone photoreceptors without retinal degeneration up to 12 months post-fertilization [5]. In Rab28 -/- mice, there is a recapitulation of human cone-rod dystrophy features, with reduced cone and rod electroretinography responses, progressive retina degeneration, and almost absent cone phagosomes [7]. In human patients, null and hypomorphic alleles of RAB28 cause autosomal recessive cone-rod dystrophy (arCORD), and a missense mutation prevents its localization to the primary cilium [1,8].
In conclusion, Rab28 is essential for normal function in the retina, especially in cone-related processes like OSP and maintaining photoreceptor and RPE homeostasis. Gene-knockout mouse models have been instrumental in revealing its role in cone-rod dystrophy, providing insights into the disease mechanism and potential gene therapy strategies for RAB28-associated CORD [1,4,7,9].
References:
1. Moran, Ailis L, Fehilly, John D, Blacque, Oliver, Kennedy, Breandán N. 2023. Gene therapy for RAB28: What can we learn from zebrafish? In Vision research, 210, 108270. doi:10.1016/j.visres.2023.108270. https://pubmed.ncbi.nlm.nih.gov/37321111/
2. Akella, Jyothi S, Carter, Stephen P, Nguyen, Ken, Barr, Maureen M, Blacque, Oliver E. 2020. Ciliary Rab28 and the BBSome negatively regulate extracellular vesicle shedding. In eLife, 9, . doi:10.7554/eLife.50580. https://pubmed.ncbi.nlm.nih.gov/32101165/
3. Zhou, Zhou, Menzel, Franziska, Benninghoff, Tim, Holman, Geoffrey D, Al-Hasani, Hadi. 2016. Rab28 is a TBC1D1/TBC1D4 substrate involved in GLUT4 trafficking. In FEBS letters, 591, 88-96. doi:10.1002/1873-3468.12509. https://pubmed.ncbi.nlm.nih.gov/27929607/
4. Moran, Ailís L, Carter, Stephen P, Kaylor, Joanna J, Blacque, Oliver E, Kennedy, Breandán N. . Dawn and dusk peaks of outer segment phagocytosis, and visual cycle function require Rab28. In FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 36, e22309. doi:10.1096/fj.202101897R. https://pubmed.ncbi.nlm.nih.gov/35471581/
5. Carter, Stephen P, Moran, Ailís L, Matallanas, David, Blacque, Oliver E, Kennedy, Breandán N. 2020. Genetic Deletion of Zebrafish Rab28 Causes Defective Outer Segment Shedding, but Not Retinal Degeneration. In Frontiers in cell and developmental biology, 8, 136. doi:10.3389/fcell.2020.00136. https://pubmed.ncbi.nlm.nih.gov/32258030/
6. Jiang, Jun, Qi, Ying-Xin, Zhang, Ping, Chien, Shu, Jiang, Zong-Lai. 2013. Involvement of Rab28 in NF-κB nuclear transport in endothelial cells. In PloS one, 8, e56076. doi:10.1371/journal.pone.0056076. https://pubmed.ncbi.nlm.nih.gov/23457503/
7. Ying, Guoxin, Boldt, Karsten, Ueffing, Marius, Frederick, Jeanne M, Baehr, Wolfgang. 2018. The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium. In The Journal of biological chemistry, 293, 17546-17558. doi:10.1074/jbc.RA118.005484. https://pubmed.ncbi.nlm.nih.gov/30228185/
8. Jespersgaard, Cathrine, Hey, Amalie Brunbjerg, Ilginis, Tomas, Møller, Lisbeth Birk, Grønskov, Karen. . A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. In Investigative ophthalmology & visual science, 61, 29. doi:10.1167/iovs.61.2.29. https://pubmed.ncbi.nlm.nih.gov/32084271/
9. Rao, Nitya T, Sumaroka, Alexander, Santos, Arlene J, Cideciyan, Artur V, Aleman, Tomas S. 2024. Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy. In Ophthalmic genetics, 45, 506-515. doi:10.1080/13816810.2024.2362204. https://pubmed.ncbi.nlm.nih.gov/38956823/
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