C57BL/6NCya-Atp5poem1/Cya
Common Name:
Atp5po-KO
Product ID:
S-KO-16163
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Atp5po-KO
Strain ID
KOCMP-28080-Atp5po-B6N-VB
Gene Name
Product ID
S-KO-16163
Gene Alias
ATPO; Atp5o; D12Wsu28e; OSCP
Background
C57BL/6NCya
NCBI ID
Modification
Conventional knockout
Chromosome
16
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Atp5poem1/Cya mice (Catalog S-KO-16163) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000023677
NCBI RefSeq
NM_138597
Target Region
Exon 2~4
Size of Effective Region
~3.6 kb
Detailed Document
Overview of Gene Research
Atp5po, encoding the oligomycin sensitivity conferring protein, is a component of the mitochondrial ATPase. It is crucial for mitochondrial complex V function, which catalyzes the generation of ATP through oxidative phosphorylation [2]. This gene is involved in energy-related biological processes such as mitochondrial transmembrane transport, oxidative phosphorylation, and thermogenesis [4].
In zebrafish, overexpression of Atp5po led to a significant reduction of enteric nervous system (ENS) cells, along with impaired neuronal differentiation and reduced mitochondrial ATP production. Epistasis was observed between Atp5po and ret, suggesting its role in Hirschsprung disease (HSCR) etiology, especially in Down Syndrome (DS) patients [1]. In humans, a homozygous splice variant in Atp5po disrupted mitochondrial complex V function, causing Leigh syndrome in affected individuals, characterized by multi-systemic disorders [2]. Also, an intronic splice-disrupting alteration in compound heterozygosity with a nonsense variant in Atp5po was found in a patient with variable neurologic phenotypes [3].
In conclusion, Atp5po is essential for mitochondrial ATP production and normal ENS development. Studies using genetic models like zebrafish and human exome sequencing have revealed its significant role in diseases such as HSCR in DS patients and Leigh syndrome. Understanding Atp5po's function can potentially provide insights into the pathogenesis of these disorders and inform new therapeutic strategies.
References:
1. Kuil, L E, Chauhan, R K, de Graaf, B M, Brosens, E, Alves, M M. 2023. ATP5PO levels regulate enteric nervous system development in zebrafish, linking Hirschsprung disease to Down Syndrome. In Biochimica et biophysica acta. Molecular basis of disease, 1870, 166991. doi:10.1016/j.bbadis.2023.166991. https://pubmed.ncbi.nlm.nih.gov/38128843/
2. Ganapathi, Mythily, Friocourt, Gaelle, Gueguen, Naig, Le Marechal, Cedric, Chung, Wendy K. 2022. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. In Journal of inherited metabolic disease, 45, 996-1012. doi:10.1002/jimd.12526. https://pubmed.ncbi.nlm.nih.gov/35621276/
3. Zech, Michael, Kopajtich, Robert, Steinbrücker, Katja, Winkelmann, Juliane, Prokisch, Holger. 2022. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. In Annals of neurology, 91, 225-237. doi:10.1002/ana.26293. https://pubmed.ncbi.nlm.nih.gov/34954817/
4. Chang, Jiahui, Wu, Wanyu, Qian, Ping, Wang, Fang, Zhang, Ting. 2025. Multi-omics study on the effect of moderate-intensity exercise on protein lactylation in mouse muscle tissue. In Frontiers in cell and developmental biology, 12, 1472338. doi:10.3389/fcell.2024.1472338. https://pubmed.ncbi.nlm.nih.gov/39935788/
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