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C57BL/6JCya-Acbd5em1/Cya
Common Name:
Acbd5-KO
Product ID:
S-KO-16795
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Acbd5-KO
Strain ID
KOCMP-74159-Acbd5-B6J-VB
Gene Name
Acbd5
Product ID
S-KO-16795
Gene Alias
1300014E15Rik
Background
C57BL/6JCya
NCBI ID
74159
Modification
Conventional knockout
Chromosome
2
Phenotype
MGI:1921409
Document
Click here to download >>
Application
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Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Acbd5em1/Cya mice (Catalog S-KO-16795) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000228050
NCBI RefSeq
NM_001355637
Target Region
Exon 4
Size of Effective Region
~0.1 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Acbd5, acyl-CoA binding domain containing protein 5, is a peroxisomal membrane protein with a cytosolic acyl-CoA binding domain. It is involved in peroxisome-endoplasmic reticulum (ER) interactions and lipid metabolism, especially in the handling of very long-chain fatty acids (VLCFAs) en route for peroxisomal β-oxidation [1,2]. The peroxisome-ER cooperation is crucial for cellular lipid metabolism, phospholipid exchange, and metabolite transport [4]. Genetic models, such as knockout mice, have been valuable in studying its function.

In Acbd5-deficient HeLa cells, there is an accumulation of VLCFAs due to impaired peroxisomal β-oxidation, suggesting that Acbd5 is important for sequestering C26-CoA in the cytosol and facilitating its transport into the peroxisome for β-oxidation [1]. Acbd5-deficient mice recapitulate key features of the human disorder, including reduced survival, impaired locomotion, loss of photoreceptors, and demyelination. Lipidomic studies in these mice show extensive lipid dysregulation caused by VLCFA accumulation [2]. Moreover, in Acbd5-deficient mice, the liver exhibits increased peroxisome abundance but drastically reduced peroxisome-ER contacts, along with tissue-specific alterations in distinct lipid classes [3].

In conclusion, Acbd5 is essential for peroxisomal VLCFA metabolism and maintaining proper peroxisome-ER contacts. The study of Acbd5-deficient mouse models has provided insights into the role of Acbd5 in diseases related to lipid metabolism, such as retinal dystrophy, white matter disease, and ataxia with associated neurological and lipid-related phenotypes [1,2,3].

References:

1. Ferdinandusse, Sacha, Falkenberg, Kim D, Koster, Janet, Vanderver, Adeline, Waterham, Hans R. 2016. ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. In Journal of medical genetics, 54, 330-337. doi:10.1136/jmedgenet-2016-104132. https://pubmed.ncbi.nlm.nih.gov/27799409/

2. Granadeiro, Luis, Zarralanga, Violeta Enríquez, Rosa, Ricardo, Lamas, Sofia, Brites, Pedro. . Ataxia with giant axonopathy in Acbd5-deficient mice halted by adeno-associated virus gene therapy. In Brain : a journal of neurology, 147, 1457-1473. doi:10.1093/brain/awad407. https://pubmed.ncbi.nlm.nih.gov/38066620/

3. Darwisch, Warda, von Spangenberg, Marino, Lehmann, Jana, Vaz, Frédéric M, Islinger, Markus. 2020. Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis. In Communications biology, 3, 713. doi:10.1038/s42003-020-01442-x. https://pubmed.ncbi.nlm.nih.gov/33244184/

4. Costello, Joseph L, Castro, Inês G, Hacker, Christian, Islinger, Markus, Schrader, Michael. 2017. ACBD5 and VAPB mediate membrane associations between peroxisomes and the ER. In The Journal of cell biology, 216, 331-342. doi:10.1083/jcb.201607055. https://pubmed.ncbi.nlm.nih.gov/28108524/

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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