C57BL/6JCya-Sptssaem1flox/Cya
Common Name:
Sptssa-flox
Product ID:
S-CKO-00406
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Sptssa-flox
Strain ID
CKOCMP-104725-Sptssa-B6J-VA
Gene Name
Product ID
S-CKO-00406
Gene Alias
1110002B05Rik; Ssspta
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
12
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Sptssaem1flox/Cya mice (Catalog S-CKO-00406) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000056228
NCBI RefSeq
NM_134054
Target Region
Exon 1
Size of Effective Region
~0.4 kb
Detailed Document
Overview of Gene Research
SPTSSA, encoding the small subunit A of serine palmitoyltransferase, is crucial for sphingolipid synthesis. Sphingolipids are vital components in mammalian nervous system myelin membranes, involved in various biological processes like cell growth, differentiation, apoptosis, and stress responses. Serine palmitoyltransferase catalyzes the rate-limiting reaction of sphingolipid synthesis, and SPTSSA participates in acyl-CoA coordination, stimulating the enzyme's activity and regulating substrate selectivity [3,4].
In terms of disease-related findings, pathogenic variants in SPTSSA in three children caused a complex form of hereditary spastic paraplegia. These variants impaired the negative regulation of serine palmitoyltransferase by ORMDLs, leading to excessive sphingolipid synthesis, which was responsible for defects in early brain development and function [1]. In glioblastoma, SPTSSA expression was significantly upregulated in diffuse glioma compared to normal tissues, associated with poor survival, and was related to tumor-infiltrating immune cells and oxidative stress [2].
In conclusion, SPTSSA plays an essential role in sphingolipid synthesis, and its dysregulation is associated with diseases such as hereditary spastic paraplegia and glioblastoma. Studies on SPTSSA contribute to understanding the mechanisms of these diseases and may provide potential therapeutic targets.
References:
1. Srivastava, Siddharth, Shaked, Hagar Mor, Gable, Kenneth, Eichler, Florian, Dunn, Teresa M. . SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. In Brain : a journal of neurology, 146, 1420-1435. doi:10.1093/brain/awac460. https://pubmed.ncbi.nlm.nih.gov/36718090/
2. Wang, Ziheng, Ge, Xinqi, Shi, Jinlong, Zhang, Xiaojin, Huang, Jianfei. 2022. SPTSSA Is a Prognostic Marker for Glioblastoma Associated with Tumor-Infiltrating Immune Cells and Oxidative Stress. In Oxidative medicine and cellular longevity, 2022, 6711085. doi:10.1155/2022/6711085. https://pubmed.ncbi.nlm.nih.gov/36062185/
3. Hornemann, Thorsten. 2024. Sphingoid Base Diversity. In Atherosclerosis, 401, 119091. doi:10.1016/j.atherosclerosis.2024.119091. https://pubmed.ncbi.nlm.nih.gov/39824719/
4. Li, Sisi, Xie, Tian, Liu, Peng, Wang, Lei, Gong, Xin. 2021. Structural insights into the assembly and substrate selectivity of human SPT-ORMDL3 complex. In Nature structural & molecular biology, 28, 249-257. doi:10.1038/s41594-020-00553-7. https://pubmed.ncbi.nlm.nih.gov/33558762/
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