C57BL/6JCya-Rlbp1em1flox/Cya
Common Name
Rlbp1-flox
Product ID
S-CKO-04807
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-19771-Rlbp1-B6J-VA
Status
When using this mouse strain in a publication, please cite “Rlbp1-flox Mouse (Catalog S-CKO-04807) 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
Rlbp1-flox
Strain ID
CKOCMP-19771-Rlbp1-B6J-VA
Gene Name
Product ID
S-CKO-04807
Gene Alias
CRALBP, 3110056M11Rik
Background
C57BL/6JCya
Gene Full Name
retinaldehyde binding protein 1
Modification
Conditional knockout
NCBI ID
Phenotype
Chromosome
Chr 7 (Mouse)
Application
--
Datasheet
Strain Description
Ensembl Transcript ID
ENSMUST00000179243
NCBI Transcript ID
NM_001173483
Target Region
Exon 5
Size of Effective Region
~2.4 kb
Overview of Gene Research
RLBP1, encoding cellular retinaldehyde-binding protein (CRALBP), is a crucial gene in the visual cycle. CRALBP is essential in rod and cone visual cycles, primarily located in the retinal pigment epithelium (RPE) and Müller cells of the neuroretina. By binding 11-cis-retinoid, it augments RPE65 isomerase activity, facilitates 11-cis-retinol oxidation to 11-cis-retinal, maintains the 11-cis configuration, and protects against unwanted retinaldehyde activity [2,3].
In an Rlbp1-/-murine model, reduced 11-cis-retinal levels, quantitative fundus autofluorescence (qAF), near-infrared autofluorescence (NIR-AF) intensities, and photoreceptor loss were observed, consistent with the clinical presentation of affected siblings in human studies of RLBP1-associated diseases. This indicates that RLBP1 mutations lead to progressive disease involving RPE atrophy and photoreceptor cell degeneration [3]. In a 5-year prospective study of patients with RLBP1-associated retinal dystrophy, severely delayed dark-adaptation (DA) sensitivity recovery was a characteristic feature, suggesting it could be a suitable efficacy assessment for gene therapy in this patient population [1]. Gene therapy using AAV8-RLBP1 in patients with RLBP1-associated retinal dystrophy showed preliminary safety and efficacy, with significant improvement in dark-adaptation kinetics and resolution of disease-related retinal deposits [4].
In conclusion, RLBP1 is vital for the normal function of the visual cycle. Studies using gene-knockout mouse models and human patient-based research have revealed its role in maintaining retinal health. Understanding RLBP1 function through these models is crucial for developing effective therapies for RLBP1-associated retinal dystrophies.
References：
1. Burstedt, Marie, Whelan, James H, Green, Jane S, He, Yunsheng, Stasi, Kalliopi. . Retinal Dystrophy Associated With RLBP1 Retinitis Pigmentosa: A Five-Year Prospective Natural History Study. In Investigative ophthalmology & visual science, 64, 42. doi:10.1167/iovs.64.13.42. https://pubmed.ncbi.nlm.nih.gov/37883093/
2. Damodar, Krishna, Dubois, Gregor, Guillou, Laurent, Brabet, Philippe, Kalatzis, Vasiliki. 2024. Dual CRALBP isoforms unveiled: iPSC-derived retinal modeling and AAV2/5-RLBP1 gene transfer raise considerations for effective therapy. In Molecular therapy : the journal of the American Society of Gene Therapy, 32, 4319-4336. doi:10.1016/j.ymthe.2024.10.004. https://pubmed.ncbi.nlm.nih.gov/39385467/
3. Lima de Carvalho, Jose Ronaldo, Kim, Hye Jin, Ueda, Keiko, Tsang, Stephen H, Sparrow, Janet R. 2020. Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice. In The Journal of biological chemistry, 295, 6767-6780. doi:10.1074/jbc.RA120.012695. https://pubmed.ncbi.nlm.nih.gov/32188692/
4. Kvanta, Anders, Rangaswamy, Nalini, Holopigian, Karen, Stasi, Kalliopi, André, Helder. 2024. Interim safety and efficacy of gene therapy for RLBP1-associated retinal dystrophy: a phase 1/2 trial. In Nature communications, 15, 7438. doi:10.1038/s41467-024-51575-4. https://pubmed.ncbi.nlm.nih.gov/39256350/
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
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