C57BL/6JCya-Abcd1em1flox/Cya
Common Name:
Abcd1-flox
Product ID:
S-CKO-01131
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Abcd1-flox
Strain ID
CKOCMP-11666-Abcd1-B6J-VA
Gene Name
Product ID
S-CKO-01131
Gene Alias
ALDP; Ald; Aldgh
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Abcd1em1flox/Cya mice (Catalog S-CKO-01131) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000002084
NCBI RefSeq
NM_007435
Target Region
Exon 2
Size of Effective Region
~1.3 kb
Detailed Document
Overview of Gene Research
Abcd1, encoding a peroxisomal ABC half-transporter (ALDP), is crucial for the import of very long-chain fatty acids (VLCFA) into the peroxisome. Mutations in Abcd1 lead to X-linked adrenoleukodystrophy (X-ALD), a peroxisomal disorder. ABCD1-related pathways involve peroxisomal β-oxidation of VLCFA, and its normal function is vital for maintaining cellular lipid homeostasis [1,3,4,5,6,7].
In Abcd1-deficient mice, lipidome analyses revealed increased levels of cholesterol esters (CE) containing VLCFA. Under high-cholesterol loading, gene expression changes related to cholesterol metabolism were observed in human X-ALD fibroblasts. These included increased SOAT1 (converting cholesterol to CE) and lipid droplet formation, as well as upregulated NCEH1 (catalyzing CE hydrolysis), ABCA1 (cholesterol transporter), and cholesterol efflux. Similar changes were confirmed in the spinal cord of X-ALD mice, where Apoe (CNS cholesterol transporter) expression was also elevated [2].
In conclusion, Abcd1 is essential for VLCFA import into peroxisomes, maintaining lipid homeostasis. Studies on Abcd1-deficient mouse models have revealed its role in cholesterol metabolism in the context of X-ALD, providing insights into the pathophysiology of this disorder.
References:
1. Kemp, S, Pujol, A, Waterham, H R, Wanders, R J, Moser, H W. . ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. In Human mutation, 18, 499-515. doi:. https://pubmed.ncbi.nlm.nih.gov/11748843/
2. Buda, Agnieszka, Forss-Petter, Sonja, Hua, Rong, Weinhofer, Isabelle, Berger, Johannes. 2023. ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis. In Biomolecules, 13, . doi:10.3390/biom13091333. https://pubmed.ncbi.nlm.nih.gov/37759733/
3. Manor, Joshua, Chung, Hyunglok, Bhagwat, Pranjali K, Wangler, Michael F. 2021. ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models. In Journal of neuroscience research, 99, 3170-3181. doi:10.1002/jnr.24953. https://pubmed.ncbi.nlm.nih.gov/34716609/
4. Cappa, Marco, Todisco, Tommaso, Bizzarri, Carla. 2023. X-linked adrenoleukodystrophy and primary adrenal insufficiency. In Frontiers in endocrinology, 14, 1309053. doi:10.3389/fendo.2023.1309053. https://pubmed.ncbi.nlm.nih.gov/38034003/
5. Zuo, Xinxin, Chen, Zeyu. 2024. From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy. In Lipids in health and disease, 23, 369. doi:10.1186/s12944-024-02361-0. https://pubmed.ncbi.nlm.nih.gov/39529100/
6. Engelen, Marc, Kemp, Stephan, Poll-The, Bwee-Tien. . X-linked adrenoleukodystrophy: pathogenesis and treatment. In Current neurology and neuroscience reports, 14, 486. doi:10.1007/s11910-014-0486-0. https://pubmed.ncbi.nlm.nih.gov/25115486/
7. Engelen, Marc, Kemp, Stephan, Eichler, Florian. . Adrenoleukodystrophy. In Handbook of clinical neurology, 204, 133-138. doi:10.1016/B978-0-323-99209-1.00022-3. https://pubmed.ncbi.nlm.nih.gov/39322375/
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