C57BL/6JCya-Atp7bem1flox/Cya
Common Name:
Atp7b-flox
Product ID:
S-CKO-18458
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Atp7b-flox
Strain ID
CKOCMP-11979-Atp7b-B6J-VB
Gene Name
Product ID
S-CKO-18458
Gene Alias
Atp7a; WND; tx
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
8
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Atp7bem1flox/Cya mice (Catalog S-CKO-18458) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000006742
NCBI RefSeq
NM_007511
Target Region
Exon 2
Size of Effective Region
~2.5 kb
Detailed Document
Overview of Gene Research
Atp7b, a gene encoding a copper-transporting P-type ATPase, is predominantly expressed in the liver. It plays a crucial role in copper metabolism, being involved in the intracellular trafficking of copper in hepatocytes [6]. Mutations in this gene are associated with Wilson's disease, an autosomal recessive disorder of copper metabolism [1,2,3,4,5,7,8].
In a large cohort of Chinese patients with Wilson's disease, 161 non-synonymous variants in Atp7b were detected, with 58 being novel. Ninety percent of these patients could be genetically diagnosed with two or more 'pathogenic' or 'likely pathogenic' variants [1]. Different functional properties of Atp7b variants associated with Wilson's disease were analyzed, showing that they disrupt the protein's transport activity, mislocalize it, and reduce its stability [2]. The penetrance of Atp7b variants was studied, suggesting that differences in penetrance can explain the discrepancy between reported epidemiological and genetic prevalences of Wilson's disease [3].
In conclusion, Atp7b is essential for copper metabolism in the liver. Its dysfunction due to genetic variants is strongly linked to Wilson's disease. Studies on Atp7b variants help in understanding the genotype-phenotype correlation, disease pathogenesis, and contribute to early diagnosis and individualized treatment of Wilson's disease [1,2,3].
References:
1. Dong, Yi, Ni, Wang, Chen, Wan-Jin, Xu, Jian-Feng, Wu, Zhi-Ying. 2016. Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. In Theranostics, 6, 638-49. doi:10.7150/thno.14596. https://pubmed.ncbi.nlm.nih.gov/27022412/
2. Huster, Dominik, Kühne, Angelika, Bhattacharjee, Ashima, Caca, Karel, Lutsenko, Svetlana. 2012. Diverse functional properties of Wilson disease ATP7B variants. In Gastroenterology, 142, 947-956.e5. doi:10.1053/j.gastro.2011.12.048. https://pubmed.ncbi.nlm.nih.gov/22240481/
3. Wallace, Daniel F, Dooley, James S. 2020. ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease. In Human genetics, 139, 1065-1075. doi:10.1007/s00439-020-02161-3. https://pubmed.ncbi.nlm.nih.gov/32248359/
4. Singh, Nivedita, Kallollimath, Pradeep, Shah, Mohd Hussain, Sinha, Sanjib, Kumar, Arun. 2019. Genetic analysis of ATP7B in 102 south Indian families with Wilson disease. In PloS one, 14, e0215779. doi:10.1371/journal.pone.0215779. https://pubmed.ncbi.nlm.nih.gov/31059521/
5. Nayagam, Jeremy S, Jeyaraj, Rebecca, Foskett, Pierre, Bomford, Adrian, Thompson, Richard J. 2022. ATP7B Genotype and Chronic Liver Disease Treatment Outcomes in Wilson Disease: Worse Survival With Loss-of-Function Variants. In Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association, 21, 1323-1329.e4. doi:10.1016/j.cgh.2022.08.041. https://pubmed.ncbi.nlm.nih.gov/36096368/
6. Terada, K, Schilsky, M L, Miura, N, Sugiyama, T. . ATP7B (WND) protein. In The international journal of biochemistry & cell biology, 30, 1063-7. doi:. https://pubmed.ncbi.nlm.nih.gov/9785470/
7. Gorukmez, Orhan, Özgür, Taner, Gorukmez, Ozlem, Topak, Ali. 2023. ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease. In Fetal and pediatric pathology, 42, 891-900. doi:10.1080/15513815.2023.2260005. https://pubmed.ncbi.nlm.nih.gov/37737146/
8. Lorincz, Matthew T. . Neurologic Wilson's disease. In Annals of the New York Academy of Sciences, 1184, 173-87. doi:10.1111/j.1749-6632.2009.05109.x. https://pubmed.ncbi.nlm.nih.gov/20146697/
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