C57BL/6JCya-Col7a1em1flox/Cya
Common Name
Col7a1-flox
Product ID
S-CKO-01819
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-12836-Col7a1-B6J-VA
When using this mouse strain in a publication, please cite “Col7a1-flox Mouse (Catalog S-CKO-01819) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Col7a1-flox
Strain ID
CKOCMP-12836-Col7a1-B6J-VA
Gene Name
Product ID
S-CKO-01819
Gene Alias
--
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
Chr 9
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000112070
NCBI RefSeq
NM_007738
Target Region
Exon 4~13
Size of Effective Region
~2.9 kb
Overview of Gene Research
COL7A1, encoding type VII collagen, is a crucial gene as type VII collagen is a major component of the anchoring fibrils at the dermal-epidermal junction, which is essential for maintaining skin integrity [3,6,7]. Mutations in COL7A1 can disrupt this structure and lead to various skin-related diseases.
Mutations in COL7A1 cause malfunction, reduction or absence of type VII collagen in the skin's basement membrane zone, resulting in dystrophic epidermolysis bullosa (DEB), a severe skin blistering disease with a high risk of squamous cell carcinoma [1]. In cholangiocarcinoma, COL7A1 expression affects cell proliferation, migration, and invasion through the COL7A1/PI3K/AKT axis [2]. In clear-cell renal cell carcinoma, COL7A1 expression can stratify patients in terms of aggressiveness and is a new prognosis marker [4]. Also, RNA trans-splicing has been explored to correct COL7A1 mutations in vitro for treating RDEB [1,5].
In summary, COL7A1 is vital for skin integrity. Research on COL7A1-related diseases, such as DEB, cholangiocarcinoma, and clear-cell renal cell carcinoma, through studying its mutations and expression, has provided insights into disease mechanisms and potential treatment strategies like RNA trans-splicing.
References：
1. Liemberger, Bernadette, Bischof, Johannes, Ablinger, Michael, Bauer, Johann W, Koller, Ulrich. 2023. COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents. In International journal of molecular sciences, 24, . doi:10.3390/ijms24054341. https://pubmed.ncbi.nlm.nih.gov/36901775/
2. Ma, Yang, Zhang, Yanfang, Chen, Fangfang, Zhang, Dengyong, Liang, Rui. 2024. The COL7A1/PI3K/AKT axis regulates the progression of cholangiocarcinoma. In Heliyon, 10, e37361. doi:10.1016/j.heliyon.2024.e37361. https://pubmed.ncbi.nlm.nih.gov/39309925/
3. Jin, Ling, Li, Zhi, Xin, Cong, Zhang, Bo, Yang, Sen. 2019. A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature. In Journal of cosmetic dermatology, 19, 1508-1512. doi:10.1111/jocd.13172. https://pubmed.ncbi.nlm.nih.gov/31709745/
4. Koca, Dzenis, Séraudie, Irinka, Jardillier, Rémy, Filhol, Odile, Guyon, Laurent. 2023. COL7A1 Expression Improves Prognosis Prediction for Patients with Clear Cell Renal Cell Carcinoma Atop of Stage. In Cancers, 15, . doi:10.3390/cancers15102701. https://pubmed.ncbi.nlm.nih.gov/37345040/
5. Mayr, Elisabeth, Ablinger, Michael, Lettner, Thomas, Koller, Ulrich, Wally, Verena. 2022. 5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa. In International journal of molecular sciences, 23, . doi:10.3390/ijms23031732. https://pubmed.ncbi.nlm.nih.gov/35163654/
6. Varki, Roslyn, Sadowski, Sara, Uitto, Jouni, Pfendner, Ellen. 2006. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. In Journal of medical genetics, 44, 181-92. doi:. https://pubmed.ncbi.nlm.nih.gov/16971478/
7. Dang, Ningning, Murrell, Dédée F. . Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. In Experimental dermatology, 17, 553-68. doi:10.1111/j.1600-0625.2008.00723.x. https://pubmed.ncbi.nlm.nih.gov/18558993/
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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