C57BL/6JCya-Slc7a13em1/Cya
Common Name:
Slc7a13-KO
Product ID:
S-KO-19485
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Slc7a13-KO
Strain ID
KOCMP-74087-Slc7a13-B6J-VC
Gene Name
Product ID
S-KO-19485
Gene Alias
0610009O04Rik; AGT-1; AGT1; XAT2
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
4
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Slc7a13em1/Cya mice (Catalog S-KO-19485) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000035890
NCBI RefSeq
NM_028746
Target Region
Exon 3
Size of Effective Region
~2.2 kb
Detailed Document
Overview of Gene Research
Slc7a13, also known as AGT1, is a membrane protein that functions as a cystine transporter in the renal proximal tubule. It forms a heterodimer with rBAT/SLC3A1 in the apical membrane of the S3 segment of proximal tubules and is involved in the reabsorption of cystine, as well as transporting aspartate and glutamate [3].
No evidence was found for point mutations in SLC7A13 contributing to the etiology of cystinuria in a cohort of 17 patients negative for SLC3A1 and SLC7A9 mutations, excluding it as the third cystinuria gene for these cases [1]. However, further research is still needed to fully elucidate its role in human cystinuria as it remains a promising candidate gene [2].
In a cisplatin-induced acute kidney injury mouse model, the Lhx1os-203/mmu-miR-21a-3p/Slc7a13 ceRNA regulatory pathway was identified, suggesting a potential role in this condition [4]. Additionally, a SNP in SLC7A13 was associated with bovine tuberculosis status in African buffalo, indicating its possible involvement in genetic susceptibility to the disease [5].
In conclusion, Slc7a13 is an important cystine transporter in the renal proximal tubule. Although it has been excluded as a major contributor to cystinuria in certain patient cohorts, its potential role in human cystinuria and other disease conditions such as acute kidney injury and bovine tuberculosis susceptibility requires further investigation. The study of Slc7a13 using various models helps to understand its functions in different biological processes and disease mechanisms.
References:
1. Olschok, Kathrin, Vester, Udo, Lahme, Sven, Kurth, Ingo, Eggermann, Thomas. 2018. No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria. In BMC nephrology, 19, 278. doi:10.1186/s12882-018-1080-5. https://pubmed.ncbi.nlm.nih.gov/30342472/
2. Abad Baucells, Clàudia, Schönauer, Ria, Halbritter, Jan. 2023. The genetics of cystinuria - an update and critical reevaluation. In Current opinion in nephrology and hypertension, 33, 231-237. doi:10.1097/MNH.0000000000000949. https://pubmed.ncbi.nlm.nih.gov/38240263/
3. Nagamori, Shushi, Wiriyasermkul, Pattama, Guarch, Meritxell Espino, Palacín, Manuel, Kanai, Yoshikatsu. 2016. Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1. In Proceedings of the National Academy of Sciences of the United States of America, 113, 775-80. doi:10.1073/pnas.1519959113. https://pubmed.ncbi.nlm.nih.gov/26739563/
4. Ding, Yun, Wan, Shengfeng, Liu, Wenna, Cao, Huixia, Shao, Fengmin. 2022. Regulation Networks of Non-Coding RNA-Associated ceRNAs in Cisplatin-Induced Acute Kidney Injury. In Cells, 11, . doi:10.3390/cells11192971. https://pubmed.ncbi.nlm.nih.gov/36230932/
5. le Roex, Nikki, Koets, Ad P, van Helden, Paul D, Hoal, Eileen G. 2013. Gene polymorphisms in African buffalo associated with susceptibility to bovine tuberculosis infection. In PloS one, 8, e64494. doi:10.1371/journal.pone.0064494. https://pubmed.ncbi.nlm.nih.gov/23691232/
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