C57BL/6JCya-Slc52a3em1flox/Cya
Common Name:
Slc52a3-flox
Product ID:
S-CKO-14620
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Slc52a3-flox
Strain ID
CKOCMP-69698-Slc52a3-B6J-VA
Gene Name
Product ID
S-CKO-14620
Gene Alias
2310046K01Rik; RFT2
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Slc52a3em1flox/Cya mice (Catalog S-CKO-14620) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000073228
NCBI RefSeq
NM_027172
Target Region
Exon 2~3
Size of Effective Region
~3.0 kb
Detailed Document
Overview of Gene Research
Slc52a3, encoding riboflavin transporter protein RFVT3, is crucial for maintaining mitochondrial function as riboflavin is essential for cellular reduction-oxidation reactions [3,4,6]. It is involved in riboflavin absorption, with its deficiency potentially disrupting related physiological processes [3,4,6].
In Slc52a3 knockout (Slc52a3 -/-) mice, most died within 48 hours after birth due to hyperlipidemia, hypoglycemia, and riboflavin deficiency. Placental riboflavin transport capacity was lower in Slc52a3 -/- fetuses, and riboflavin supplementation reduced neonatal death and metabolic disorders [4]. Slc52a3 -/- embryos also showed hypoplasia of the brain and reduced thickness of cortical layers, with riboflavin supplementation rescuing the hypoplastic phenotype [8].
In humans, SLC52A3 mutations are associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease, presenting with pontobulbar palsy, muscle weakness, and respiratory insufficiency [5,7]. Additionally, SLC52A3 rs13042395 C>T variation in Chinese gastric cancer patients was associated with poor survival, increased mRNA expression, and promoted cancer cell aggressiveness [1]. A meta-analysis also suggested SLC52A3 rs13042395 C>T polymorphism might be a biomarker for cancer susceptibility [2]. In esophageal cancer, SLC52A3 has two transcript variants, and its overexpression is related to disease development and patient survival, with NF-κB p65/Rel-B activating its expression [3].
In conclusion, Slc52a3 is essential for riboflavin homeostasis, which is vital for normal physiological development, including that of the brain in mice. Its disruption leads to neonatal lethality and metabolic and developmental disorders. In humans, SLC52A3 mutations and genetic variations are associated with neurological and cancer-related diseases, highlighting its significance in disease-related research. The Slc52a3 KO mouse models have been instrumental in revealing its role in these biological processes and disease conditions [1,2,3,4,5,7,8].
References:
1. Qu, Xiaofei, Cheng, Lei, Zhao, Liqin, Qiu, Lixin, Guo, Weijian. 2020. Functional variation of SLC52A3 rs13042395 predicts survival of Chinese gastric cancer patients. In Journal of cellular and molecular medicine, 24, 12550-12559. doi:10.1111/jcmm.15798. https://pubmed.ncbi.nlm.nih.gov/32888389/
2. Li, Jun, Wang, Shilong, Li, Man, Zhao, Jin, Li, Feng. 2016. Decreased risk of developing cancer in subjects carrying SLC52A3 rs13042395 polymorphism: proof from a meta-analysis. In Biomarkers in medicine, 10, 1105-1118. doi:. https://pubmed.ncbi.nlm.nih.gov/27600099/
3. Long, Lin, Pang, Xiao-Xiao, Lei, Fei, Li, En-Min, Xu, Li-Yan. 2018. SLC52A3 expression is activated by NF-κB p65/Rel-B and serves as a prognostic biomarker in esophageal cancer. In Cellular and molecular life sciences : CMLS, 75, 2643-2661. doi:10.1007/s00018-018-2757-4. https://pubmed.ncbi.nlm.nih.gov/29428966/
4. Yoshimatsu, Hiroki, Yonezawa, Atsushi, Yamanishi, Kaori, Inui, Ken-Ichi, Matsubara, Kazuo. 2016. Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice. In Scientific reports, 6, 27557. doi:10.1038/srep27557. https://pubmed.ncbi.nlm.nih.gov/27272163/
5. Gayathri, Santhalingam, Gowda, Vykuntaraju K, Udhayabanu, Tamilarasan, Houlden, Henry, Ashokkumar, Balasubramaniem. 2021. Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance. In European journal of neurology, 28, 945-954. doi:10.1111/ene.14682. https://pubmed.ncbi.nlm.nih.gov/33325104/
6. Intoh, Atsushi, Suzuki, Naoki, Koszka, Kathryn, Eggan, Kevin. 2016. SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. In Human molecular genetics, 25, 1814-23. doi:10.1093/hmg/ddw053. https://pubmed.ncbi.nlm.nih.gov/26976849/
7. Khani, Marzieh, Shamshiri, Hosein, Taheri, Hanieh, Nafissi, Shahriar, Elahi, Elahe. 2020. BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes. In Neurobiology of aging, 99, 102.e1-102.e10. doi:10.1016/j.neurobiolaging.2020.09.021. https://pubmed.ncbi.nlm.nih.gov/33189404/
8. Jin, Congyun, Yonezawa, Atsushi, Yoshimatsu, Hiroki, Nagai, Junya, Matsubara, Kazuo. 2020. Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice. In Scientific reports, 10, 18443. doi:10.1038/s41598-020-75601-9. https://pubmed.ncbi.nlm.nih.gov/33116204/
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