C57BL/6JCya-Atp2c1em1/Cya
Common Name:
Atp2c1-KO
Product ID:
S-KO-17922
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Atp2c1-KO
Strain ID
KOCMP-235574-Atp2c1-B6J-VA
Gene Name
Product ID
S-KO-17922
Gene Alias
1700121J11Rik; ATP2C1A; BCPM; D930003G21Rik; HHD; SPCA; SPCA1; pmr1
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
9
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Atp2c1em1/Cya mice (Catalog S-KO-17922) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000112558
NCBI RefSeq
NM_001253834
Target Region
Exon 9~10
Size of Effective Region
~2.3 kb
Detailed Document
Overview of Gene Research
ATP2C1, encoding the secretory pathway Ca(2+)/Mn(2+)-ATPase pump type 1 (SPCA1) [2], functions to maintain normal intracellular concentrations of Ca2+/Mn2+ by transporting them into the Golgi apparatus [1]. This process is crucial for normal cellular function, potentially affecting multiple cellular pathways related to cell adhesion and differentiation [1,2,4,7,10].
Mutations in ATP2C1 have been identified as the cause of Hailey-Hailey disease (HHD), a rare autosomal dominant acantholytic dermatosis [1,2,3,4,5,6,7,8,9,10]. Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1, likely contributing to HHD manifestation as Notch signalling is a determinant of keratinocyte growth and differentiation [4]. Also, ATP2C1 knockdown in keratinocytes leads to abnormal expressions of cytoskeletal and tight junction proteins, mimicking the acantholysis seen in HHD [10].
In conclusion, ATP2C1 is essential for maintaining proper intracellular Ca2+/Mn2+ levels, which is crucial for normal cell function. Studies, especially those using loss-of-function models like ATP2C1 knockdown in keratinocytes, have revealed its significant role in the pathogenesis of HHD, highlighting its importance in understanding and potentially treating this skin disorder [1,2,4,10].
References:
1. Deng, Hao, Xiao, Heng. 2017. The role of the ATP2C1 gene in Hailey-Hailey disease. In Cellular and molecular life sciences : CMLS, 74, 3687-3696. doi:10.1007/s00018-017-2544-7. https://pubmed.ncbi.nlm.nih.gov/28551824/
2. Micaroni, M, Giacchetti, G, Plebani, R, Xiao, G G, Federici, L. 2016. ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking. In Cell death & disease, 7, e2259. doi:10.1038/cddis.2016.147. https://pubmed.ncbi.nlm.nih.gov/27277681/
3. Xu, Kejia, Shi, Bingjun, Diao, Qingchun, Jiang, Xue, Xiao, Yujuan. 2017. Identification of 2 Novel Mutations in ATP2C1 Gene in Hailey-Hailey Disease and a Literature Review of Variations in a Chinese Han Population. In Medical science monitor basic research, 23, 352-361. doi:. https://pubmed.ncbi.nlm.nih.gov/29104283/
4. Zonfrilli, Azzurra, Truglio, Federica, Simeone, Alessandra, Cialfi, Samantha, Talora, Claudio. 2023. Loss of ATP2C1 function promotes trafficking and degradation of NOTCH1: Implications for Hailey-Hailey disease. In Experimental dermatology, 32, 787-798. doi:10.1111/exd.14769. https://pubmed.ncbi.nlm.nih.gov/36789506/
5. Yang, Lu, Zhang, Qianli, Zhang, Shiyu, Liu, Yaping, Wang, Tao. 2020. Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review. In Molecular genetics & genomic medicine, 9, e1580. doi:10.1002/mgg3.1580. https://pubmed.ncbi.nlm.nih.gov/33345454/
6. Nellen, Ruud G L, Steijlen, Peter M, van Steensel, Maurice A M, Frank, Jorge, van Geel, Michel. 2017. Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease. In Human mutation, 38, 343-356. doi:10.1002/humu.23164. https://pubmed.ncbi.nlm.nih.gov/28035777/
7. Porro, Adriana Maria, Arai Seque, Camila, Miyamoto, Denise, Simões E Silva Enokihara, Milvia Maria, Giuli Santi, Claudia. 2024. Hailey-Hailey disease: clinical, diagnostic and therapeutic update. In Anais brasileiros de dermatologia, 99, 651-661. doi:10.1016/j.abd.2023.12.003. https://pubmed.ncbi.nlm.nih.gov/38789364/
8. Meng, L, Gu, Y, Du, X F, Zhang, G L, Wang, X L. 2015. Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population. In Genetics and molecular research : GMR, 14, 19349-59. doi:10.4238/2015.December.29.45. https://pubmed.ncbi.nlm.nih.gov/26782588/
9. Zhang, Deng, Xiao, Zhen, Ouyang, Xiaoliang, Yu, Simin, Li, Chunming. 2023. Two Novel and a Recurrent ATP2C1 Mutations in Chinese Population with Hailey-Hailey Disease. In Clinical, cosmetic and investigational dermatology, 16, 1545-1548. doi:10.2147/CCID.S417792. https://pubmed.ncbi.nlm.nih.gov/37342538/
10. Zhou, Mingzhu, Kang, Shiran, Xia, Yumin, Zhang, Dingwei, Chen, Wenwen. . ATP2C1 knockdown induces abnormal expressions of cytoskeletal and tight junction proteins mimicking Hailey-Hailey disease. In Indian journal of dermatology, venereology and leprology, 90, 722-730. doi:10.25259/IJDVL_853_2023. https://pubmed.ncbi.nlm.nih.gov/38841932/
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