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C57BL/6JCya-Spag1em1/Cya
Common Name:
Spag1-KO
Product ID:
S-KO-17275
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Spag1-KO
Strain ID
KOCMP-26942-Spag1-B6J-VB
Gene Name
Spag1
Product ID
S-KO-17275
Gene Alias
tpis
Background
C57BL/6JCya
NCBI ID
26942
Modification
Conventional knockout
Chromosome
15
Phenotype
MGI:1349387
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Spag1em1/Cya mice (Catalog S-KO-17275) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000047348
NCBI RefSeq
NM_001359980
Target Region
Exon 3~8
Size of Effective Region
~12.4 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Spag1, or sperm-associated antigen 1, is a multidomain protein. It is essential for the assembly of axonemal dynein arms in cilia, a process crucial for the function of motile cells. It interacts with multiple dynein axonemal assembly factors (DNAAFs), dynein chains and components of the R2TP complex, and is necessary for scaffolding R2TP-like complexes that facilitate the folding and binding of dynein heavy chains (DHCs) to the dynein intermediate chain (DIC) complex [2,4,6]. Mutations in Spag1 result in primary ciliary dyskinesia (PCD), a disorder characterized by chronic oto-sino-pulmonary disease, infertility and laterality defects [2,3,7,8].

In acute myeloid leukemia (AML), Spag1 is widely expressed and its high expression is associated with a poor prognosis. RNA interference knockdown tests showed that Spag1 promotes the proliferation and survival of AML cells, regulates the expression of structural maintenance of chromosomes protein 3 (SMC3), and activates the ERK/MAPK signaling pathway. Inhibiting Spag1 also impacts AML cell susceptibility to venetoclax. Bioinformatics and clinical validation further confirmed that Spag1 overexpression may serve as an independent prognostic biomarker and guide treatment choice between hematopoietic stem cell transplantation (HSCT) and chemotherapy in AML patients [1,5]. In porcine immature Sertoli cells, miR-638 targets Spag1 to inhibit cell proliferation, cell cycle, and promote apoptosis, and it indirectly inactivates the PI3K/AKT pathway [9].

In conclusion, Spag1 plays a crucial role in cilia-related biological functions and is associated with PCD. In the context of AML, it affects cell proliferation, survival, and chemotherapy sensitivity, highlighting its potential as a therapeutic target. The study of Spag1 in these disease areas, through methods like RNA interference knockdown (functionally similar to gene knockout in revealing gene function), provides insights into disease mechanisms and potential treatment strategies.

References:
1. Liu, Lu, Liu, Jing, Liu, Xiao-Jun, Yang, Lin, Luo, Jian-Min. 2022. SPAG1 promotes the development of AML by activating the ERK/MAPK signaling pathway and affects the chemotherapy sensitivity of venetoclax. In Neoplasma, 69, 1108-1118. doi:10.4149/neo_2022_220415N416. https://pubmed.ncbi.nlm.nih.gov/35951456/
2. Smith, Amanda J, Bustamante-Marin, Ximena M, Yin, Weining, Zariwala, Maimoona A, Ostrowski, Lawrence E. 2022. The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia. In Journal of cell science, 135, . doi:10.1242/jcs.259512. https://pubmed.ncbi.nlm.nih.gov/35178554/
3. Guan, Yuhong, Yang, Haiming, Yao, Xingfeng, Ge, Wentong, Ni, Xin. 2021. Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China. In Chest, 159, 1768-1781. doi:10.1016/j.chest.2021.02.006. https://pubmed.ncbi.nlm.nih.gov/33577779/
4. Chagot, Marie-Eve, Dos Santos Morais, Raphael, Dermouche, Sana, Dehez, François, Quinternet, Marc. 2019. Binding properties of the quaternary assembly protein SPAG1. In The Biochemical journal, 476, 1679-1694. doi:10.1042/BCJ20190198. https://pubmed.ncbi.nlm.nih.gov/31118266/
5. Gu, Yu, Chu, Ming-Qiang, Xu, Zi-Jun, Lin, Jiang, Zhou, Jing-Dong. 2022. Comprehensive analysis of SPAG1 expression as a prognostic and predictive biomarker in acute myeloid leukemia by integrative bioinformatics and clinical validation. In BMC medical genomics, 15, 38. doi:10.1186/s12920-022-01193-0. https://pubmed.ncbi.nlm.nih.gov/35227274/
6. Dermouche, Sana, Chagot, Marie-Eve, Manival, Xavier, Quinternet, Marc. 2021. Optimizing the First TPR Domain of the Human SPAG1 Protein Provides Insight into the HSP70 and HSP90 Binding Properties. In Biochemistry, 60, 2349-2363. doi:10.1021/acs.biochem.1c00052. https://pubmed.ncbi.nlm.nih.gov/33739091/
7. Knowles, Michael R, Ostrowski, Lawrence E, Loges, Niki T, Omran, Heymut, Zariwala, Maimoona A. 2013. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. In American journal of human genetics, 93, 711-20. doi:10.1016/j.ajhg.2013.07.025. https://pubmed.ncbi.nlm.nih.gov/24055112/
8. Jat, Kana Ram, Faruq, Mohammed, Jindal, Shishir, Arava, Sudheer K, Kabra, Sushil K. 2024. Genetics of 67 patients of suspected primary ciliary dyskinesia from India. In Clinical genetics, 106, 650-658. doi:10.1111/cge.14590. https://pubmed.ncbi.nlm.nih.gov/39004944/
9. Hu, Pandi, Guan, Kaifeng, Feng, Yue, Li, Jialian, Li, Fenge. 2017. miR-638 Inhibits immature Sertoli cell growth by indirectly inactivating PI3K/AKT pathway via SPAG1 gene. In Cell cycle (Georgetown, Tex.), 16, 2290-2300. doi:10.1080/15384101.2017.1380130. https://pubmed.ncbi.nlm.nih.gov/29119857/
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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