C57BL/6JCya-Havcr2em1flox/Cya
Common Name:
Havcr2-flox
Product ID:
S-CKO-03616
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Havcr2-flox
Strain ID
CKOCMP-171285-Havcr2-B6J-VB
Gene Name
Product ID
S-CKO-03616
Gene Alias
TIM-3; Tim3; Timd3
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Havcr2em1flox/Cya mice (Catalog S-CKO-03616) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000020668
NCBI RefSeq
NM_134250
Target Region
Exon 2~4
Size of Effective Region
~12.0 kb
Detailed Document
Overview of Gene Research
Havcr2, also known as TIM-3 (T cell immunoglobulin and mucin domain 3), is a gene encoding a cell surface protein that acts as a negative regulator in the immune system. TIM-3 binds to ligands like galectin-9, Psdter, HMGB1, and Ceacam-1, and is involved in immune regulation pathways, playing a crucial role in autoimmune diseases, chronic viral infections, and tumors [2].
Germline HAVCR2 mutations have been associated with various diseases. For instance, they are linked to subcutaneous panniculitis-like T-cell lymphoma (SPTCL) leading to Hemophagocytic lymphohistiocytosis (HLH), and can cause HLH even without lymphoma [1]. A young male patient with a homozygous c.245 A > G p.Tyr82Cys pathogenic variant in HAVCR2 gene had recurrent myocarditis, suggesting that TIM-3 deficiency due to this mutation is associated with autoinflammatory symptoms [3]. Also, male sex and younger age are associated with HLH in patients with HAVCR2 mutations [4]. Ruxolitinib, targeting inflammatory cytokines, shows excellent efficacy in treating HAVCR2 mutation-associated HLH and panniculitis manifestations, indicating an inflammatory rather than neoplastic nature of the disease [5].
In conclusion, Havcr2 is essential in immune regulation, and its mutations are associated with diseases like HLH, SPTCL, and recurrent myocarditis. The study of HAVCR2 through genetic models, especially in understanding the role of its mutations, provides insights into the pathogenesis of these diseases, which may help develop new treatment strategies.
References:
1. Song, Deli, Wang, Jingshi, Zhang, Jia, Wu, Chaofan, Wang, Zhao. 2023. Case Report: HAVCR2 mutation-associated Hemophagocytic lymphohistiocytosis. In Frontiers in immunology, 14, 1271324. doi:10.3389/fimmu.2023.1271324. https://pubmed.ncbi.nlm.nih.gov/38077348/
2. Zhao, Lizhen, Cheng, Shaoyun, Fan, Lin, Zhang, Bei, Xu, Shengwei. 2021. TIM-3: An update on immunotherapy. In International immunopharmacology, 99, 107933. doi:10.1016/j.intimp.2021.107933. https://pubmed.ncbi.nlm.nih.gov/34224993/
3. Pernaa, Nora, Vakkuri, Anni, Arvonen, Miika, Åström, Pirjo, Hautala, Timo. 2024. Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis. In Journal of clinical immunology, 44, 81. doi:10.1007/s10875-024-01685-x. https://pubmed.ncbi.nlm.nih.gov/38485795/
4. Moonla, Chatphatai, Polprasert, Chantana, Komvilaisak, Patcharee, Sosothikul, Darintr, Rojnuckarin, Ponlapat. 2023. Germline HAVCR2 mutations and their relation to the clinical spectrum of subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis: results from a multicenter study and meta-analysis. In Haematologica, 108, 2743-2752. doi:10.3324/haematol.2022.282419. https://pubmed.ncbi.nlm.nih.gov/37051767/
5. Zhang, Qing, Zhou, Chun-Ju, Li, Dan-Hong, Duan, Yan-Long, Zhang, Rui. 2023. Efficacy of ruxolitinib for HAVCR2 mutation-associated hemophagocytic lymphohistiocytosis and panniculitis manifestations in children. In British journal of haematology, 202, 135-146. doi:10.1111/bjh.18817. https://pubmed.ncbi.nlm.nih.gov/37062931/
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