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C57BL/6JCya-Cd40lgem1flox/Cya
Common Name:
Cd40lg-flox
Product ID:
S-CKO-06395
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Price:
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Basic Information
Strain Name
Cd40lg-flox
Strain ID
CKOCMP-21947-Cd40lg-B6J-VA
Gene Name
Cd40lg
Product ID
S-CKO-06395
Gene Alias
CD154; CD40-L; Cd40l; HIGM1; IGM; IMD3; Ly-62; Ly62; T-BAM; TRAP; Tnfsf5; Tnlg8b; gp39
Background
C57BL/6JCya
NCBI ID
21947
Modification
Conditional knockout
Chromosome
X
Phenotype
MGI:88337
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Cd40lgem1flox/Cya mice (Catalog S-CKO-06395) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000033466
NCBI RefSeq
NM_011616.2
Target Region
Exon 3~4
Size of Effective Region
~2.8 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Cd40lg, also known as CD40 ligand, is a crucial protein in the immune system. It plays a significant role in the interaction between T cells and B cells, as well as antigen-presenting cells. By binding to CD40, it activates various immune-related pathways, such as costimulatory signals, which are essential for the regulation of humoral and cellular immune responses [3,7].

Mutations in the CD40LG gene are associated with X-linked hyper-IgM syndrome (XHIGM), a primary immunodeficiency disorder. Patients with XHIGM have abnormal levels of immunoglobulins, with decreased IgG and IgA but normal or elevated IgM. They are highly susceptible to infections like pneumonia, diarrhea, and skin ulcers [2,4,6]. Additionally, CD40LG-associated X-linked hyper-IgM syndrome can present with pulmonary alveolar proteinosis [2]. Some patients have also developed anti-phospholipid syndrome, a new complication associated with XHIGM [6]. Computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome can help identify the deleterious effects of these variants and potential mechanisms for protein dysfunction [5]. Moreover, CD40LG triplication is associated with immune dysregulation and exhaustion [1]. In the context of Sjögren's disease, a CD40 ligand antagonist, dazodalibep, shows potential as a new therapy, indicating the importance of the CD40/CD40 ligand pathway in its pathogenesis [7].

In conclusion, Cd40lg is essential for proper immune system function. Studies related to its mutations and duplications, as well as the use of its antagonist, have provided insights into various immune-related disorders, including primary immunodeficiencies and autoimmune diseases. Understanding Cd40lg's role helps in developing better diagnostic and therapeutic strategies for these conditions.

References:
1. Santaniemi, Wenny, Pernaa, Nora, Glumoff, Virpi, Hautala, Timo. 2022. CD40LG Triplication Associates with Immune Dysregulation and Exhaustion. In Journal of clinical immunology, 43, 323-326. doi:10.1007/s10875-022-01392-5. https://pubmed.ncbi.nlm.nih.gov/36346498/
2. Xu, Hong-Bo, Tian, Mao-Qiang, Bai, Yong-Hua, Li, Lei, Chen, Yan. 2023. CD40LG-associated X-linked Hyper-IgM Syndrome (XHIGM) with pulmonary alveolar proteinosis: a case report. In BMC pediatrics, 23, 239. doi:10.1186/s12887-023-04054-6. https://pubmed.ncbi.nlm.nih.gov/37173671/
3. Laman, Jon D, Molloy, Michael, Noelle, Randolph J. 2024. Switching off autoimmunity. In Science (New York, N.Y.), 385, 827-829. doi:10.1126/science.ade6949. https://pubmed.ncbi.nlm.nih.gov/39172850/
4. Lien, Nguyen Thi Kim, Van Anh, Nguyen Thi, Chi, Le Quynh, Van Tung, Nguyen, Hoang, Nguyen Huy. 2021. Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients. In Clinical and experimental medicine, 23, 157-161. doi:10.1007/s10238-021-00774-0. https://pubmed.ncbi.nlm.nih.gov/34842998/
5. Pazhanisamy, Amudha, Jorge, Salomao Doria, Zimmermann, Michael T, Urrutia, Raul, Abraham, Roshini S. 2023. Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome. In Clinical immunology (Orlando, Fla.), 253, 109692. doi:10.1016/j.clim.2023.109692. https://pubmed.ncbi.nlm.nih.gov/37433422/
6. Phan, Anh Nguyen Lien, Pham, Thuy Thi Thanh, Phan, Xinh Thi, Bui, Chi-Bao, Van Hagen, Petrus Martinus. 2021. CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication. In Molecular genetics & genomic medicine, 9, e1732. doi:10.1002/mgg3.1732. https://pubmed.ncbi.nlm.nih.gov/34114358/
7. St Clair, E William, Baer, Alan N, Ng, Wan-Fai, Rees, William A, Alevizos, Ilias. 2024. CD40 ligand antagonist dazodalibep in Sjögren's disease: a randomized, double-blinded, placebo-controlled, phase 2 trial. In Nature medicine, 30, 1583-1592. doi:10.1038/s41591-024-03009-3. https://pubmed.ncbi.nlm.nih.gov/38839899/
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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