C57BL/6JCya-Rfxankem1flox/Cya
Common Name:
Rfxank-flox
Product ID:
S-CKO-04787
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Rfxank-flox
Strain ID
CKOCMP-19727-Rfxank-B6J-VA
Gene Name
Product ID
S-CKO-04787
Gene Alias
Tvl1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
8
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Rfxankem1flox/Cya mice (Catalog S-CKO-04787) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000212320
NCBI RefSeq
NM_011266
Target Region
Exon 3~6
Size of Effective Region
~2.0 kb
Detailed Document
Overview of Gene Research
RFXANK, also known as regulatory factor X-associated ankyrin-containing protein, is a key positive regulator of major histocompatibility complex II (MHC II) gene expression [5]. The RFXANK-encoded subunit is involved in the assembly of multiple transcription factors on MHC II promoters, playing a crucial role in antigen presentation and the immune response [6].
Mutations in the RFXANK gene account for over 70% of known patients with MHC II deficiency worldwide [2]. Homozygous loss-of-function mutations in RFXANK can cause bare lymphocyte syndrome (BLS) type II, complementation group B, which is associated with late-onset immunodeficiency and can also lead to progressive neurodegenerative disease including ataxia and neurologic regression [1]. In a multicenter cohort, patients with RFXANK mutations presented with later onset and diagnosis compared to those with RFX5 mutations, along with a more significant diagnostic delay [3]. In Iranian patients, a specific RFXANK founder mutation (c.162delG) was identified, which was limited to the Iranian population and dated back approximately 1296 years ago [4].
In conclusion, RFXANK is essential for the proper expression of MHC II molecules, which is crucial for the immune system's antigen-presenting function. The study of RFXANK gene mutations in various patient populations helps to understand the genetic basis of MHC II deficiency and associated neurodegenerative diseases, providing insights for early diagnosis, prognosis, and potential treatment strategies such as hematopoietic stem cell transplantation [1,2,3,4].
References:
1. Alharby, Essa, Obaid, Mona, Elamin, Mohammed A O, Alasmari, Ali, Almontashiri, Naif A M. 2021. Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome. In Neurology. Genetics, 7, e586. doi:10.1212/NXG.0000000000000586. https://pubmed.ncbi.nlm.nih.gov/33855173/
2. Cai, Yu Qing, Zhang, HangHu, Wang, Xiang Zhi, Shu, YingYing, Tang, Lan Fang. 2020. A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review. In Open forum infectious diseases, 7, ofaa314. doi:10.1093/ofid/ofaa314. https://pubmed.ncbi.nlm.nih.gov/32875002/
3. Gulec Koksal, Zeynep, Bilgic Eltan, Sevgi, Topyildiz, Ezgi, Karakoc Aydiner, Elif, Baris, Safa. 2024. MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort. In The journal of allergy and clinical immunology. In practice, 12, 2490-2502.e6. doi:10.1016/j.jaip.2024.06.046. https://pubmed.ncbi.nlm.nih.gov/38996837/
4. Mousavi Khorshidi, Mohadese Sadat, Seeleuthner, Yoann, Chavoshzadeh, Zahra, Shahrooei, Mohammad, Parvaneh, Nima. 2023. Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population. In Journal of clinical immunology, 43, 1941-1952. doi:10.1007/s10875-023-01562-z. https://pubmed.ncbi.nlm.nih.gov/37584719/
5. McKinsey, Timothy A, Kuwahara, Koichiro, Bezprozvannaya, Svetlana, Olson, Eric N. 2005. Class II histone deacetylases confer signal responsiveness to the ankyrin-repeat proteins ANKRA2 and RFXANK. In Molecular biology of the cell, 17, 438-47. doi:. https://pubmed.ncbi.nlm.nih.gov/16236793/
6. Wiszniewski, Wojciech, Fondaneche, Marie-Claude, Louise-Plence, Pascale, Fischer, Alain, Lisowska-Grospierre, Barbara. 2003. Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II. In Immunogenetics, 54, 747-55. doi:. https://pubmed.ncbi.nlm.nih.gov/12618906/
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