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C57BL/6JCya-Slc25a38em1flox/Cya
Common Name:
Slc25a38-flox
Product ID:
S-CKO-05357
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Slc25a38-flox
Strain ID
CKOCMP-208638-Slc25a38-B6J-VA
Gene Name
Slc25a38
Product ID
S-CKO-05357
Gene Alias
appoptosin
Background
C57BL/6JCya
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/6JCya-Slc25a38em1flox/Cya mice (Catalog S-CKO-05357) 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 mitochondrial solute carrier, is crucial for mitochondrial functions. It acts as a mitochondrial glycine carrier and is involved in pathways like heme biosynthesis and one-carbon metabolism [1,5,6]. Mutations in Slc25a38 are associated with congenital sideroblastic anemia (CSA), a disorder characterized by pathologic iron deposits in erythroblast mitochondria [1,3,4,5,7]. Mouse models have been valuable in studying its role.

Using CRISPR-CAS9 and conditional gene targeting, mouse models recapitulating SLC25A38-CSA have been developed. These models show an extreme hypersensitivity to pyridoxine deficiency, uncovering a conditional synthetic lethality between heme synthesis-related CSAs and pyridoxine deficiency [3]. Also, loss-of-function of Slc25a38 in erythroleukemia cells causes depletion of mitochondrial (but not cellular) pyridoxal 5'-phosphate, impairing cellular proliferation [2].

In conclusion, Slc25a38 is essential for mitochondrial pyridoxal 5'-phosphate accumulation and normal heme biosynthesis. The mouse models of SLC25A38-CSA have provided insights into the pathophysiology of congenital sideroblastic anemia and the conditional synthetic lethality with pyridoxine deficiency, potentially informing novel therapeutic strategies for this disease [2,3].

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. 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/
3. 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/
4. Ravindra, Niveditha, Athiyarath, Rekha, S, Eswari, George, Biju, Edison, Eunice Sindhuvi. 2020. Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent. In Journal of clinical pathology, 74, 157-162. doi:10.1136/jclinpath-2020-206647. https://pubmed.ncbi.nlm.nih.gov/32605921/
5. 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/
6. Sha, Zhou, Benkovic, Stephen J. 2024. Purinosomes spatially co-localize with mitochondrial transporters. In The Journal of biological chemistry, 300, 107620. doi:10.1016/j.jbc.2024.107620. https://pubmed.ncbi.nlm.nih.gov/39098527/
7. Andolfo, Immacolata, Martone, Stefania, Ribersani, Michela, Iolascon, Achille, Russo, Roberta. 2020. Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus. In Haematologica, 105, 2883-2886. doi:10.3324/haematol.2020.258533. https://pubmed.ncbi.nlm.nih.gov/33256393/
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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