C57BL/6NCya-Oxa1lem1flox/Cya
Common Name:
Oxa1l-flox
Product ID:
S-CKO-14410
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Oxa1l-flox
Strain ID
CKOCMP-69089-Oxa1l-B6N-VA
Gene Name
Product ID
S-CKO-14410
Gene Alias
1810020M02Rik
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
14
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Oxa1lem1flox/Cya mice (Catalog S-CKO-14410) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000000985
NCBI RefSeq
NM_026936
Target Region
Exon 3
Size of Effective Region
~0.7 kb
Detailed Document
Overview of Gene Research
Oxa1l, the human homologue of the yeast Oxa1 protein, belongs to the evolutionarily conserved Oxa1/Alb3/YidC protein family [4]. It is an integral mitochondrial inner-membrane protein essential for the biogenesis of membrane proteins in mitochondria. Oxa1l is involved in pathways such as mitochondrial oxidative phosphorylation and is crucial for the cotranslational membrane insertion of mitochondrial-encoded proteins [1,2].
Mutations in Oxa1L in a patient led to severe encephalopathy, hypotonia, and developmental delay, along with complex IV deficiency in skeletal muscle [3]. Targeted depletion of Oxa1L in human cells or Drosophila melanogaster caused defects in the assembly of complexes I, IV, and V, indicating its role in the assembly of multiple respiratory chain complexes [3]. In HEK293 cells, stable short-hairpin (sh)RNA-mediated knockdown of Oxa1l resulted in decreased steady-state levels and activity of the F1Fo-ATP synthase and moderately reduced levels and activity of NADH:ubiquinone oxidoreductase (complex I) [4].
In conclusion, Oxa1l is essential for the correct biogenesis of multiple respiratory chain complexes and plays a key role in mitochondrial oxidative phosphorylation. Studies using gene-knockdown models in cells and Drosophila, as well as patient-derived mutations, have revealed its significance in mitochondrial-related diseases such as mitochondrial encephalopathy [3,4].
References:
1. Itoh, Yuzuru, Andréll, Juni, Choi, Austin, Battersby, Brendan J, Amunts, Alexey. . Mechanism of membrane-tethered mitochondrial protein synthesis. In Science (New York, N.Y.), 371, 846-849. doi:10.1126/science.abe0763. https://pubmed.ncbi.nlm.nih.gov/33602856/
2. Poerschke, Sabine, Oeljeklaus, Silke, Cruz-Zaragoza, Luis Daniel, Dennerlein, Sven, Rehling, Peter. 2024. Identification of TMEM126A as OXA1L-interacting protein reveals cotranslational quality control in mitochondria. In Molecular cell, 84, 345-358.e5. doi:10.1016/j.molcel.2023.12.013. https://pubmed.ncbi.nlm.nih.gov/38199007/
3. Thompson, Kyle, Mai, Nicole, Oláhová, Monika, Lightowlers, Robert N, Taylor, Robert W. . OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. In EMBO molecular medicine, 10, . doi:10.15252/emmm.201809060. https://pubmed.ncbi.nlm.nih.gov/30201738/
4. Stiburek, Lukas, Fornuskova, Daniela, Wenchich, Laszlo, Hansikova, Hana, Zeman, Jiri. 2007. Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase. In Journal of molecular biology, 374, 506-16. doi:. https://pubmed.ncbi.nlm.nih.gov/17936786/
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