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C57BL/6JCya-Abcd4em1/Cya
Common Name:
Abcd4-KO
Product ID:
S-KO-20808
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Abcd4-KO
Strain ID
KOCMP-19300-Abcd4-B6J-VB
Gene Name
Abcd4
Product ID
S-KO-20808
Gene Alias
P69r; P70R; Pxmp1l
Background
C57BL/6JCya
NCBI ID
19300
Modification
Conventional knockout
Chromosome
12
Phenotype
MGI:1349217
Document
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Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Abcd4em1/Cya mice (Catalog S-KO-20808) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000021666
NCBI RefSeq
NM_008992
Target Region
Exon 2~3
Size of Effective Region
~1.2 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Abcd4, a member of the ATP-binding cassette transporter superfamily, is mainly known for its role in transporting vitamin B12 (cobalamin) from lysosomes to the cytosol [2,3,4,5]. This function is crucial as vitamin B12 is essential for red blood cell development and is likely involved in its metabolism. It may also be associated with pathways related to mammary gland development, as genes like Igfbp3, Ccl5, Tlr2, and Prlr, which are associated with MAPK, JAK-STAT, and PI3K-AKT pathways, are affected by Abcd4 [1].

In zebrafish, abcd4-knockdown led to abnormal red blood cells, fewer hemoglobinized cells, and impaired blood circulation, indicating its importance in red blood cell development. The amino-acid sequence related to vitamin B12 transport in zebrafish Abcd4 is highly conserved, and the mutant can be rescued with human ABCD4, suggesting a conserved role in vertebrates [2]. In mouse HC11 mammary epithelial cells, over-expression and knockdown of Abcd4 inhibited cell proliferation and promoted apoptosis, revealing its role in mammary gland development [1].

In conclusion, Abcd4 is essential for vitamin B12 transport and metabolism, which is crucial for red blood cell development. Its role in mammary gland development, as demonstrated by in vitro experiments in mouse mammary epithelial cells, shows its significance in mammalian reproductive-related processes. The gene knockout-like models in zebrafish and in vitro knockdown in mouse cells have provided valuable insights into Abcd4-related vitamin B12-deficiency anemia and mammary gland-associated functions.

References:
1. Guo, Xiaoli, Zhao, Chengcheng, Yang, Ruifei, Wang, Yuzhe, Hu, Xiaoxiang. 2024. ABCD4 is associated with mammary gland development in mammals. In BMC genomics, 25, 494. doi:10.1186/s12864-024-10398-9. https://pubmed.ncbi.nlm.nih.gov/38764031/
2. Choi, Young Min, Kim, Yong-Il, Choi, Jung-Hwa, Choi, Tae-Young, Choe, Seong-Kyu. 2019. Loss of abcd4 in zebrafish leads to vitamin B12-deficiency anemia. In Biochemical and biophysical research communications, 514, 1264-1269. doi:10.1016/j.bbrc.2019.05.099. https://pubmed.ncbi.nlm.nih.gov/31113616/
3. Kawaguchi, Kosuke, Imanaka, Tsuneo. . Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4. In Chemical & pharmaceutical bulletin, 70, 533-539. doi:10.1248/cpb.c21-01021. https://pubmed.ncbi.nlm.nih.gov/35908918/
4. Kitai, Katsuki, Kawaguchi, Kosuke, Tomohiro, Takenori, So, Takanori, Imanaka, Tsuneo. 2021. The lysosomal protein ABCD4 can transport vitamin B12 across liposomal membranes in vitro. In The Journal of biological chemistry, 296, 100654. doi:10.1016/j.jbc.2021.100654. https://pubmed.ncbi.nlm.nih.gov/33845046/
5. Kawaguchi, Kosuke, Morita, Masashi. 2016. ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease. In BioMed research international, 2016, 6786245. doi:. https://pubmed.ncbi.nlm.nih.gov/27766264/
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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