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C57BL/6NCya-Slc25a38em1flox/Cya
Common Name:
Slc25a38-flox
Product ID:
S-CKO-19249
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Slc25a38-flox
Strain ID
CKOCMP-208638-Slc25a38-B6N-VA
Gene Name
Slc25a38
Product ID
S-CKO-19249
Gene Alias
appoptosin
Background
C57BL/6NCya
NCBI ID
208638
Modification
Conditional knockout
Chromosome
9
Phenotype
MGI:2384782
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Slc25a38em1flox/Cya mice (Catalog S-CKO-19249) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000035106
NCBI RefSeq
NM_144793
Target Region
Exon 2
Size of Effective Region
~0.6 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Slc25a38, a member of the mitochondrial solute carrier family SLC25, functions as a mitochondrial glycine carrier [1,6]. It is crucial for supplying mitochondrial glycine for 5-aminolevulinic acid synthetase 2 (ALAS2) in heme biosynthesis pathway, and is also involved in regulating mitochondrial pyridoxal 5'-phosphate (PLP) levels, which is essential for many enzymatic reactions in amino acid metabolism, one-carbon metabolism, etc [1,3,4].

Mutations in Slc25a38 cause the most common recessive form of congenital sideroblastic anemia (CSA). In a study, 31 individuals from 24 families were described, including 11 novel mutations, which helps understand the phenotypes and genotypes associated with the disease [1]. Murine models of SLC25A38-CSA were developed, showing an extreme hypersensitivity to pyridoxine deficiency, uncovering a conditional synthetic lethality between SLC25A38-related CSA and pyridoxine deficiency [4]. In uveal melanoma, low expression of SLC25A38 promotes angiogenesis and metastasis, serving as a biomarker for metastasis and clinical outcome [2]. In acute lymphoblastic leukemia cells, SLC25A38 is highly expressed and may be a biomarker and therapeutic target [5].

In conclusion, Slc25a38 is essential for mitochondrial functions related to glycine supply and PLP regulation, with its dysfunction leading to CSA. The murine models of SLC25A38-CSA have provided insights into the pathophysiology of CSA and the conditional synthetic lethality with pyridoxine deficiency. Additionally, its role in other diseases like uveal melanoma and acute lymphoblastic leukemia shows its potential as a biomarker and therapeutic target in these areas [1,2,4,5].

References:
1. Heeney, Matthew M, Berhe, Simon, Campagna, Dean R, Bottomley, Sylvia S, Fleming, Mark D. 2021. SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. In Human mutation, 42, 1367-1383. doi:10.1002/humu.24267. https://pubmed.ncbi.nlm.nih.gov/34298585/
2. Fan, Zhongyi, Duan, Jingjing, Luo, Pu, Zhang, Lei, Xu, Xiaojie. 2022. SLC25A38 as a novel biomarker for metastasis and clinical outcome in uveal melanoma. In Cell death & disease, 13, 330. doi:10.1038/s41419-022-04718-8. https://pubmed.ncbi.nlm.nih.gov/35411037/
3. Pena, Izabella A, Shi, Jeffrey S, Chang, Sarah M, Vander Heiden, Matthew G, Heiman, Myriam. 2025. SLC25A38 is required for mitochondrial pyridoxal 5'-phosphate (PLP) accumulation. In Nature communications, 16, 978. doi:10.1038/s41467-025-56130-3. https://pubmed.ncbi.nlm.nih.gov/39856062/
4. Ducamp, Sarah, Sendamarai, Anoop K, Campagna, Dean R, Schmidt, Paul J, Fleming, Mark D. . Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine. In Blood, 144, 1418-1432. doi:10.1182/blood.2023023078. https://pubmed.ncbi.nlm.nih.gov/38900972/
5. Chen, Huaying, Lu, Quanyi, Zhang, Yunwu, Zhang, Han, Xu, Huaxi. 2014. Overexpression of SLC25A38 protein on acute lymphoblastic leukemia cells. In Oncology letters, 7, 1422-1426. doi:. https://pubmed.ncbi.nlm.nih.gov/24765149/
6. Kannengiesser, Caroline, Sanchez, Mayka, Sweeney, Marion, Grandchamp, Bernard, May, Alison. 2011. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia. In Haematologica, 96, 808-13. doi:10.3324/haematol.2010.039164. https://pubmed.ncbi.nlm.nih.gov/21393332/
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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