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C57BL/6JCya-Atp10bem1/Cya
Common Name:
Atp10b-KO
Product ID:
S-KO-09192
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Atp10b-KO
Strain ID
KOCMP-319767-Atp10b-B6J-VA
Gene Name
Atp10b
Product ID
S-KO-09192
Gene Alias
5930426O13Rik; 9030605H24Rik
Background
C57BL/6JCya
NCBI ID
319767
Modification
Conventional knockout
Chromosome
11
Phenotype
MGI:2442688
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-Atp10bem1/Cya mice (Catalog S-KO-09192) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000077659
NCBI RefSeq
NM_176999
Target Region
Exon 2~3
Size of Effective Region
~1.7 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Atp10b, a P4-type ATPase gene, encodes a late endo -/lysosomal lipid flippase. It transports phosphatidylcholine (PC) and glucosylceramide (GluCer) from the lysosomal exoplasmic to cytoplasmic membrane leaflet, which is crucial for maintaining lipid homeostasis within cells. Dysfunction in this process may impact related cellular pathways, potentially affecting overall cell function and viability [2].

Mutated Atp10B has been associated with an increased risk of Parkinson's disease (PD) [2]. Recessive loss-of-function mutations in Atp10B lead to impaired lysosomal export of GluCer and PC, causing general lysosomal dysfunction and cell death in isolated cortical neurons, thus increasing PD risk [2]. In addition, transient co-expression of Atp10B with its subunit CDC50A stimulates the uptake of fluorescently labeled PC in HeLa cells, and this uptake is specific for PC and dependent on Atp10B's transport function, being impaired by disease-associated variants. The uptake is only increased under specific cell stress conditions, such as treatment with rotenone [1].

In conclusion, Atp10b is essential for endo -/lysosomal lipid flipping and lipid uptake under stress conditions. The study of Atp10b, especially through understanding its loss-of-function effects, has revealed its significance in Parkinson's disease, highlighting its potential as a therapeutic target for this neurodegenerative disorder.

References:

1. Wouters, Rosanne, Beletchi, Igor, Van den Haute, Chris, Eggermont, Jan, Vangheluwe, Peter. 2023. The lipid flippase ATP10B enables cellular lipid uptake under stress conditions. In Biochimica et biophysica acta. Molecular cell research, 1871, 119652. doi:10.1016/j.bbamcr.2023.119652. https://pubmed.ncbi.nlm.nih.gov/38086447/

2. Martin, Shaun, Smolders, Stefanie, Van den Haute, Chris, Vangheluwe, Peter, Van Broeckhoven, Christine. 2020. Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export. In Acta neuropathologica, 139, 1001-1024. doi:10.1007/s00401-020-02145-7. https://pubmed.ncbi.nlm.nih.gov/32172343/

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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