C57BL/6JCya-Septin6em1/Cya
Common Name:
Septin6-KO
Product ID:
S-KO-17418
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Septin6-KO
Strain ID
KOCMP-56526-Septin6-B6J-VB
Gene Name
Product ID
S-KO-17418
Gene Alias
2810035H17Rik; C920001C06Rik; Sep6; Sept6; mKIAA0128
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Septin6em1/Cya mice (Catalog S-KO-17418) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000115239
NCBI RefSeq
NM_001177324.1
Target Region
Exon 2
Size of Effective Region
~1.3 kb
Detailed Document
Overview of Gene Research
Septin6 is a GTP-binding protein belonging to the septin family. Septins are implicated in cytoskeleton and membrane organization, cell division, and host-pathogen interactions [4]. Septin6 has been shown to be involved in pathways such as the mTORC1 pathway, which is crucial for cell growth and protein synthesis [2].
In leukemia research, Septin6 has been found to be involved in rare MLL (now KMT2A) rearrangements. For instance, in acute monocytic leukemia and acute myeloid leukemia, the 5'-MLL/SEPTIN6-3' chimeric transcript has been identified, often resulting from complex or cryptic chromosomal rearrangements [1,3,5,6]. In dairy cow mammary epithelial cells, over-expressing or inhibiting Septin6 affects cell growth and casein synthesis via the mTORC1 pathway, indicating its role in cell growth regulation [2]. Also, Septin6 and Septin7 complexes are involved in regulating protein sorting during multivesicular body biogenesis, influencing the membrane interactions of AP-3 and ESCRT-I [4].
In conclusion, Septin6 plays essential roles in cell growth regulation, protein sorting during multivesicular body biogenesis, and is implicated in the pathogenesis of certain leukemia types. Studies on Septin6 contribute to understanding these biological processes and the underlying mechanisms of related diseases, with potential implications for diagnosis and treatment in leukemia [1,2,3,4,5,6].
References:
1. Kim, Hee-Jin, Ki, Chang-Seok, Park, Quehn, Kim, Eun-Jeong, Kim, Sun-Hee. . MLL/SEPTIN6 chimeric transcript from inv ins(X;11)(q24;q23q13) in acute monocytic leukemia: report of a case and review of the literature. In Genes, chromosomes & cancer, 38, 8-12. doi:. https://pubmed.ncbi.nlm.nih.gov/12874781/
2. Li, Bin, Basang, Zhuzha, Hu, Lijun, Liu, Liu, Jiang, Nan. 2019. Septin6 regulates cell growth and casein synthesis in dairy cow mammary epithelial cells via mTORC1 pathway. In The Journal of dairy research, 86, 181-187. doi:10.1017/S0022029919000268. https://pubmed.ncbi.nlm.nih.gov/31122298/
3. Wang, Liang, Qiu, Fangzhou, Shen, Yongming, Chen, Sen, Si, Ping. 2023. Co-existence of KMT2A::SEPTIN6 fusion and DIS3 variant in a pediatric case with acute myeloid leukemia: a case report and literature review. In Frontiers in oncology, 13, 1308786. doi:10.3389/fonc.2023.1308786. https://pubmed.ncbi.nlm.nih.gov/38152368/
4. Traikov, Sofia, Stange, Christoph, Wassmer, Thomas, Raposo, Graça, Hoflack, Bernard. 2014. Septin6 and Septin7 GTP binding proteins regulate AP-3- and ESCRT-dependent multivesicular body biogenesis. In PloS one, 9, e109372. doi:10.1371/journal.pone.0109372. https://pubmed.ncbi.nlm.nih.gov/25380047/
5. Ono, Ryoichi, Taki, Tomohiko, Taketani, Takeshi, Kobayashi, Miyuki, Hayashi, Yasuhide. . SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24. In Cancer research, 62, 333-7. doi:. https://pubmed.ncbi.nlm.nih.gov/11809673/
6. Slater, Diana J, Hilgenfeld, Eva, Rappaport, Eric F, Ried, Thomas, Felix, Carolyn A. . MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site. In Oncogene, 21, 4706-14. doi:. https://pubmed.ncbi.nlm.nih.gov/12096348/
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