C57BL/6JCya-Atp7aem1flox/Cya
Common Name:
Atp7a-flox
Product ID:
S-CKO-18252
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Atp7a-flox
Strain ID
CKOCMP-11977-Atp7a-B6J-VB
Gene Name
Product ID
S-CKO-18252
Gene Alias
MNK
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
X
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Atp7aem1flox/Cya mice (Catalog S-CKO-18252) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000055941
NCBI RefSeq
NM_001109757
Target Region
Exon 11
Size of Effective Region
~0.9 kb
Detailed Document
Overview of Gene Research
Atp7a, also known as copper-transporting ATPase 1, is a crucial energy-dependent transmembrane protein. It is involved in delivering copper to secreted copper enzymes and exporting surplus copper from cells, thus playing a fundamental role in whole-body, cellular, and subcellular copper homeostasis [2,3]. Copper is essential for numerous cellular functions in all tissues and organ systems, and Atp7a-regulated copper metabolism is associated with multiple biological pathways, such as those related to enzyme metalation and trafficking in the secretory pathway [2].
Mutations in Atp7a cause Menkes disease, an X-linked recessive lethal multisystemic disorder of copper metabolism [3]. Early seizures are specific for classical Menkes disease, while ataxia is an indicator for atypical Menkes disease. Occipital horn syndrome, another related disorder, shows bony exostoses, radial head dislocations, etc. [1]. Gene replacement in a mouse model of Menkes disease rescued the phenotype, suggesting a potential therapeutic approach for patients with complete loss-of-function Atp7a mutations [4].
In conclusion, Atp7a is vital for copper homeostasis and normal physiological function. Its dysfunction leads to severe copper-related disorders like Menkes disease. The study of Atp7a using mouse models has provided valuable insights into the mechanisms of these diseases, potentially guiding the development of therapeutic strategies for such conditions.
References:
1. De Feyter, S, Beyens, A, Callewaert, B. 2023. ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes. In Journal of inherited metabolic disease, 46, 163-173. doi:10.1002/jimd.12590. https://pubmed.ncbi.nlm.nih.gov/36692329/
2. Horn, Nina, Wittung-Stafshede, Pernilla. 2021. ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle. In Biomedicines, 9, . doi:10.3390/biomedicines9040391. https://pubmed.ncbi.nlm.nih.gov/33917579/
3. Tümer, Zeynep, Møller, Lisbeth B. 2009. Menkes disease. In European journal of human genetics : EJHG, 18, 511-8. doi:10.1038/ejhg.2009.187. https://pubmed.ncbi.nlm.nih.gov/19888294/
4. Kaler, Stephen G. . ATP7A-related copper transport diseases-emerging concepts and future trends. In Nature reviews. Neurology, 7, 15-29. doi:10.1038/nrneurol.2010.180. https://pubmed.ncbi.nlm.nih.gov/21221114/
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