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C57BL/6JCya-Hmcn1em1/Cya
Common Name:
Hmcn1-KO
Product ID:
S-KO-18258
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Hmcn1-KO
Strain ID
KOCMP-545370-Hmcn1-B6J-VB
Gene Name
Hmcn1
Product ID
S-KO-18258
Gene Alias
EG545370; FIBL-6; Gm201
Background
C57BL/6JCya
NCBI ID
545370
Modification
Conventional knockout
Chromosome
1
Phenotype
MGI:2685047
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Hmcn1em1/Cya mice (Catalog S-KO-18258) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000074783
NCBI RefSeq
NM_001024720
Target Region
Exon 2~4
Size of Effective Region
~18.4 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Hmcn1, which codes for hemicentin-1, is an extracellular matrix protein. It belongs to the fibulin family and plays pivotal roles in development and tissue homeostasis. Hmcn1 is involved in maintaining basement membrane integrity and interacts with proteins like nidogen-2 and laminins [7]. It also contributes to processes related to cell-matrix interactions and may be involved in various signaling pathways.

In epidermolysis bullosa simplex (EBS), deleterious variants in Hmcn1 co-segregate with a more severe phenotype in individuals with EBS caused by KRT14 mutations. Hemicentin-1 binds K14, and its deficiency leads to subepidermal blisters and reduced keratin intermediate filament formation, indicating its role in basement membrane zone (BMZ) stability [1]. In clear cell renal cell carcinoma (ccRCC), Hmcn1 mutation is associated with tumor mutation burden, clinical prognosis, and may regulate metabolism and the immune microenvironment [2]. In ovarian carcinoma, SRPX and Hmcn1 in cancer-associated fibroblasts (CAFs) are upregulated, and their silencing suppresses OC cell invasion via the RhoA signaling pathway [3]. In breast cancer, the variant allele frequency (VAF) of Hmcn1 correlates with prognosis and lymph node status, suggesting it as a potential metastatic factor [4]. In tooth root formation, Hmcn1 promotes mesenchymal cell differentiation, influencing dentinogenesis and pulp cell migration [5]. In glomerular diseases, increased Hmcn1 expression is associated with podocyte dysfunction and may serve as a marker for early glomerular damage [6].

In conclusion, Hmcn1 is crucial for maintaining tissue integrity and function in various biological processes. Its role in diseases such as EBS, ccRCC, ovarian carcinoma, breast cancer, and in dental and kidney-related conditions has been revealed through genetic and functional studies. These findings from different research models contribute to our understanding of the biological functions of Hmcn1 and its implications in disease mechanisms.

References:
1. Bergson, Shir, Sarig, Ofer, Giladi, Moshe, Rubinstein, Rotem, Sprecher, Eli. 2025. HMCN1 variants aggravate epidermolysis bullosa simplex phenotype. In The Journal of experimental medicine, 222, . doi:10.1084/jem.20240827. https://pubmed.ncbi.nlm.nih.gov/39976600/
2. Gong, Ziqi, Wu, Xiaowen, Guo, Qian, Zhang, Fenghao, Kong, Yan. 2022. Comprehensive Analysis of HMCN1 Somatic Mutation in Clear Cell Renal Cell Carcinoma. In Genes, 13, . doi:10.3390/genes13071282. https://pubmed.ncbi.nlm.nih.gov/35886066/
3. Liu, Chao Lien, Pan, Hung Wei, Torng, Pao Ling, Fan, Ming Huei, Mao, Tsui Lien. 2019. SRPX and HMCN1 regulate cancer‑associated fibroblasts to promote the invasiveness of ovarian carcinoma. In Oncology reports, 42, 2706-2715. doi:10.3892/or.2019.7379. https://pubmed.ncbi.nlm.nih.gov/31638245/
4. Kikutake, Chie, Yoshihara, Minako, Sato, Tetsuya, Saito, Daisuke, Suyama, Mikita. 2018. Intratumor heterogeneity of HMCN1 mutant alleles associated with poor prognosis in patients with breast cancer. In Oncotarget, 9, 33337-33347. doi:10.18632/oncotarget.26071. https://pubmed.ncbi.nlm.nih.gov/30279964/
5. Cui, Yujia, Li, Chuwen, Wang, Hanyang, Zhang, Hai, Sun, Jianxun. 2024. Hemicentin-1 is an essential extracellular matrix component during tooth root formation by promoting mesenchymal cells differentiation. In Frontiers in cell and developmental biology, 12, 1435241. doi:10.3389/fcell.2024.1435241. https://pubmed.ncbi.nlm.nih.gov/39050894/
6. Toffoli, Barbara, Zennaro, Cristina, Winkler, Carine, Gilardi, Federica, Desvergne, Béatrice. 2018. Hemicentin 1 influences podocyte dynamic changes in glomerular diseases. In American journal of physiology. Renal physiology, 314, F1154-F1165. doi:10.1152/ajprenal.00198.2017. https://pubmed.ncbi.nlm.nih.gov/29488390/
7. Zhang, Jin-Li, Richetti, Stefania, Ramezani, Thomas, Sengle, Gerhard, Hammerschmidt, Matthias. 2022. Vertebrate extracellular matrix protein hemicentin-1 interacts physically and genetically with basement membrane protein nidogen-2. In Matrix biology : journal of the International Society for Matrix Biology, 112, 132-154. doi:10.1016/j.matbio.2022.08.009. https://pubmed.ncbi.nlm.nih.gov/36007682/
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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