C57BL/6JCya-Fbn2em1/Cya
Common Name:
Fbn2-KO
Product ID:
S-KO-19050
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Fbn2-KO
Strain ID
KOCMP-14119-Fbn2-B6J-VB
Gene Name
Product ID
S-KO-19050
Gene Alias
Fib-2; mKIAA4226; sne; sy
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
18
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Fbn2em1/Cya mice (Catalog S-KO-19050) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000025497
NCBI RefSeq
NM_010181
Target Region
Exon 2
Size of Effective Region
~0.1 kb
Detailed Document
Overview of Gene Research
Fbn2, encoding fibrillin-2, is associated with elastin fibres [2]. It plays a role in the extracellular matrix organization pathway, which is important for the normal development and function of connective tissues [5].
Pathogenic variants in Fbn2 cause congenital contractural arachnodactyly (CCA), an autosomal dominant connective tissue disorder. CCA is characterized by arachnodactyly, camptodactyly, contracture of major joints, scoliosis, pectus deformities, and crumpled ears [1,3,6]. Some Fbn2 variants may also lead to severe cardiovascular manifestations [1].
In addition, Fbn2 is involved in regulating elastin deposition in adult skin models, as hypoxia can inhibit elastic fiber synthesis by reducing fibrillin-2 expression [4]. In fracture research, Fbn2 was identified as a hub gene, promoting the proliferation, mineralization, and differentiation of osteoblasts to accelerate fracture healing [7].
In conclusion, Fbn2 is crucial for connective tissue-related biological processes. Its study through analysis of pathogenic variants in CCA patients helps understand its role in connective tissue disorders. Also, its function in elastin deposition and fracture healing provides insights into skin and bone-related physiological and pathological conditions.
References：
1. Yang, Shulin, Li, Zongzhe. 2024. FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations. In Connective tissue research, 65, 214-225. doi:10.1080/03008207.2024.2340004. https://pubmed.ncbi.nlm.nih.gov/38602424/
2. Lu, Zechao, Lu, Zeguang, Lai, Yongchang, He, Zhaohui, Tang, Fucai. 2023. A comprehensive analysis of FBN2 in bladder cancer: A risk factor and the tumour microenvironment influencer. In IET systems biology, 17, 162-173. doi:10.1049/syb2.12067. https://pubmed.ncbi.nlm.nih.gov/37337404/
3. Huang, Yazhou, Fang, Xingxin, Ma, Linya, Gao, Taoran, Peng, Dan. 2025. FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations. In Molecular genetics and metabolism reports, 42, 101193. doi:10.1016/j.ymgmr.2025.101193. https://pubmed.ncbi.nlm.nih.gov/39911746/
4. Boizot, Jérémy, Minville-Walz, Mélaine, Reinhardt, Dieter Peter, Sigaudo-Roussel, Dominique, Debret, Romain. 2022. FBN2 Silencing Recapitulates Hypoxic Conditions and Induces Elastic Fiber Impairment in Human Dermal Fibroblasts. In International journal of molecular sciences, 23, . doi:10.3390/ijms23031824. https://pubmed.ncbi.nlm.nih.gov/35163744/
5. Chen, Jing, Xiang, Qinqin, Xiao, Xiao, Yang, Mei, Liu, Shanling. 2022. Carrying both COL1A2 and FBN2 gene heterozygous mutations results in a severe skeletal clinical phenotype: an affected family. In BMC medical genomics, 15, 154. doi:10.1186/s12920-022-01296-8. https://pubmed.ncbi.nlm.nih.gov/35804365/
6. Sun, Liying, Huang, Yingzhao, Zhao, Sen, Tian, Wen, Wu, Nan. 2022. Identification of Novel FBN2 Variants in a Cohort of Congenital Contractural Arachnodactyly. In Frontiers in genetics, 13, 804202. doi:10.3389/fgene.2022.804202. https://pubmed.ncbi.nlm.nih.gov/35360850/
7. Huang, Jian, Huang, Jun, Li, Nan, Wang, Lanfang, Xiao, Quanhao. 2025. FBN2 promotes the proliferation, mineralization, and differentiation of osteoblasts to accelerate fracture healing. In Scientific reports, 15, 4843. doi:10.1038/s41598-025-89215-6. https://pubmed.ncbi.nlm.nih.gov/39924543/
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