C57BL/6JCya-Septin6em1flox/Cya
Common Name:
Septin6-flox
Product ID:
S-CKO-12153
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Septin6-flox
Strain ID
CKOCMP-56526-Septin6-B6J-VA
Gene Name
Product ID
S-CKO-12153
Gene Alias
2810035H17Rik; C920001C06Rik; Sep6; Sept6; mKIAA0128
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Septin6em1flox/Cya mice (Catalog S-CKO-12153) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000115239
NCBI RefSeq
NM_001177324
Target Region
Exon 2
Size of Effective Region
~1.3 kb
Detailed Document
Overview of Gene Research
Septin6 is a member of the septin family of GTP-binding proteins. Septins are involved in cytoskeleton and membrane organization, cell division, and host-pathogen interactions [4]. Septin6, in particular, has been shown to regulate protein sorting during multivesicular body (MVB) biogenesis by binding to F-actin and interacting with AP-3 and ESCRT-I complexes [4]. It may also play roles in cell growth and casein synthesis in dairy cow mammary epithelial cells via the mTORC1 pathway [2].
Rearrangements involving Septin6 have been implicated in leukemia. For example, the fusion of MLL (now known as KMT2A) and Septin6 has been observed in acute monocytic leukemia and acute myeloid leukemia. In these cases, the MLL/Septin6 rearrangements were often cryptic or complex, and the 5'-MLL/Septin6-3' transcript was located on the derivative X chromosome [1,3,5,6]. A case of AML-M4-infant with KMT2A::Septin6 fusion and DIS3 variant was reported, suggesting that this co-existence might contribute to disease progression [3].
In conclusion, Septin6 has important functions in cellular processes such as MVB biogenesis and cell growth regulation. Its involvement in leukemia through gene fusions with MLL (KMT2A) highlights its significance in understanding the pathogenesis of certain hematological malignancies. The study of Septin6 in these contexts provides insights into disease mechanisms and potential therapeutic targets. [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