C57BL/6JCya-Slc25a48em1flox/Cya
Common Name:
Slc25a48-flox
Product ID:
S-CKO-18131
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Slc25a48-flox
Strain ID
CKOCMP-328258-Slc25a48-B6J-VB
Gene Name
Product ID
S-CKO-18131
Gene Alias
E230025K15
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
13
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Slc25a48em1flox/Cya mice (Catalog S-CKO-18131) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000021971
NCBI RefSeq
NM_177809
Target Region
Exon 2
Size of Effective Region
~0.8 kb
Detailed Document
Overview of Gene Research
Slc25a48, a mitochondrial inner-membrane carrier protein, is crucial for mitochondrial choline transport. Choline is an essential nutrient involved in phospholipid biosynthesis, neurotransmitter production, and one-carbon metabolism. Slc25a48-mediated choline import into mitochondria is a key step in these metabolic pathways, with implications for mitochondrial function and overall cell survival [1,2,3,4,5,6].
Loss-of-function studies have shown that Slc25a48 is required for brown fat thermogenesis, mitochondrial respiration, and mitochondrial membrane integrity. Cells lacking Slc25a48 exhibit decreased mitochondrial choline import, increased oxidative stress, and impaired cell proliferation. In addition, this gene is highly expressed in brown adipose tissue and is necessary for whole-body cold tolerance. Choline uptake via Slc25a48 facilitates betaine synthesis and one-carbon metabolism, and its absence leads to reduced purine nucleotide synthesis and cell death [1,5].
In conclusion, Slc25a48 plays a critical role in mitochondrial choline catabolism, bioenergetics, and cell survival. Gene-knockout studies of Slc25a48 have provided insights into its functions in metabolic processes and disease-related conditions such as impaired cell proliferation, which may have implications for understanding and treating conditions related to choline metabolism [1,3,5].
References:
1. Verkerke, Anthony R P, Shi, Xu, Li, Mark, Gerszten, Robert E, Kajimura, Shingo. 2024. SLC25A48 controls mitochondrial choline import and metabolism. In Cell metabolism, 36, 2156-2166.e9. doi:10.1016/j.cmet.2024.07.010. https://pubmed.ncbi.nlm.nih.gov/39111307/
2. Khan, Artem, Unlu, Gokhan, Lin, Phillip, Birsoy, Kıvanç, Gamazon, Eric R. 2024. Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import. In Nature genetics, 56, 1614-1623. doi:10.1038/s41588-024-01827-2. https://pubmed.ncbi.nlm.nih.gov/38977856/
3. Patil, Suraj, Borisov, Oleg, Scherer, Nora, Köttgen, Anna, Köttgen, Michael. 2024. The membrane transporter SLC25A48 enables transport of choline into human mitochondria. In Kidney international, 107, 296-301. doi:10.1016/j.kint.2024.06.022. https://pubmed.ncbi.nlm.nih.gov/39084256/
4. Bernard, David J, Pangilinan, Faith, Mendina, Caitlin, Shane, Barry, Brody, Lawrence C. 2024. SLC25A48 influences plasma levels of choline and localizes to the inner mitochondrial membrane. In Molecular genetics and metabolism, 143, 108518. doi:10.1016/j.ymgme.2024.108518. https://pubmed.ncbi.nlm.nih.gov/39047301/
5. Verkerke, Anthony R P, Shi, Xu, Abe, Ichitaro, Gerszten, Robert E, Kajimura, Shingo. 2024. Mitochondrial choline import regulates purine nucleotide pools via SLC25A48. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.12.31.573776. https://pubmed.ncbi.nlm.nih.gov/38260464/
6. Khan, Artem, Unlu, Gokhan, Lin, Phillip, Birsoy, Kıvanç, Gamazon, Eric R. 2023. GeneMAP: A discovery platform for metabolic gene function. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.12.07.570588. https://pubmed.ncbi.nlm.nih.gov/38106122/
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