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C57BL/6JCya-Sptlc2em1flox/Cya
Common Name:
Sptlc2-flox
Product ID:
S-CKO-05262
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Sptlc2-flox
Strain ID
CKOCMP-20773-Sptlc2-B6J-VA
Gene Name
Sptlc2
Product ID
S-CKO-05262
Gene Alias
LCB2; LCB2a; Spt2
Background
C57BL/6JCya
NCBI ID
20773
Modification
Conditional knockout
Chromosome
12
Phenotype
MGI:108074
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Sptlc2em1flox/Cya mice (Catalog S-CKO-05262) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000021424
NCBI RefSeq
NM_011479
Target Region
Exon 3~4
Size of Effective Region
~2.7 kb
Detailed Document
Click here to download >>
Overview of Gene Research
SPTLC2, serine palmitoyltransferase long chain base subunit 2, is a key subunit of serine palmitoyltransferase (SPT), the rate-limiting enzyme in de novo sphingolipid biosynthesis. Sphingolipids are important for cell membrane structure, cell-cell communication, and signaling pathways. SPTLC2 is thus crucial for normal cellular function and is involved in multiple biological processes [4,5,6,7].

In ALS, heterozygous SPTLC2 variants are associated with early-onset cases and frontotemporal dementia (FTD), with patients showing elevated plasma ceramide levels due to increased SPT activity and sphingolipid overproduction [1]. In ovarian cancer, depletion of SPTLC2 suppresses cell growth, migration, and metastasis, while overexpression promotes these processes through driving an EGFR-FAK-HBEGF signaling axis [2]. In osteoarthritis, overexpression of SPTLC2 in OA chondrocytes enhances cell viability, decreases apoptosis, and promotes ECM-related collagen expression while suppressing matrix metalloproteinase levels, and in vivo, it alleviates chondrocyte injuries [3]. In liver, ER stress upregulates SPTLC2, increasing ceramide levels and leading to reduced hepatic insulin response [4]. In CD8+ T cells, HSAN-I-associated SPTLC2 mutations dampen responses, and Sptlc2 deficiency in murine T cells impairs antiviral-T-cell expansion and effector function [5]. In tumors, a serine-free diet or Sptlc2 deficiency suppresses regulatory T cell accumulation and tumor growth [6].

In summary, SPTLC2 plays diverse and significant roles in various biological processes and disease conditions. Through functional studies, especially in relevant disease models, it is clear that SPTLC2-mediated sphingolipid metabolism is a key factor in neurodegenerative diseases like ALS, cancer development, and immune cell responses. Understanding SPTLC2 provides insights into disease mechanisms and potential therapeutic targets.

References:
1. Naruse, Hiroya, Ishiura, Hiroyuki, Esaki, Kayoko, Tsuji, Shoji, Toda, Tatsushi. 2024. SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis. In Annals of clinical and translational neurology, 11, 946-957. doi:10.1002/acn3.52013. https://pubmed.ncbi.nlm.nih.gov/38316966/
2. Zhai, Xingyue, Shen, Ning, Guo, Tao, Meng, Songshu, Du, Sha. 2024. SPTLC2 drives an EGFR-FAK-HBEGF signaling axis to promote ovarian cancer progression. In Oncogene, 44, 679-693. doi:10.1038/s41388-024-03249-0. https://pubmed.ncbi.nlm.nih.gov/39645550/
3. Lü, Guohua, Wu, Ren, Wang, Bing, Wang, Xiaoxiao, Kuang, Lei. 2023. SPTLC2 ameliorates chondrocyte dysfunction and extracellular matrix metabolism disturbance in vitro and in vivo in osteoarthritis. In Experimental cell research, 425, 113524. doi:10.1016/j.yexcr.2023.113524. https://pubmed.ncbi.nlm.nih.gov/36828166/
4. Kim, Goon-Tae, Devi, Shivani, Sharma, Amitesh, Kwon, Sang-Ho, Park, Tae-Sik. 2022. Upregulation of the serine palmitoyltransferase subunit SPTLC2 by endoplasmic reticulum stress inhibits the hepatic insulin response. In Experimental & molecular medicine, 54, 573-584. doi:10.1038/s12276-022-00766-4. https://pubmed.ncbi.nlm.nih.gov/35513574/
5. Wu, Jingxia, Ma, Sicong, Sandhoff, Roger, Samstag, Yvonne, Cui, Guoliang. 2019. Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness. In Immunity, 50, 1218-1231.e5. doi:10.1016/j.immuni.2019.03.005. https://pubmed.ncbi.nlm.nih.gov/30952607/
6. Ma, Sicong, Sandhoff, Roger, Luo, Xiu, Gao, Pu, Cui, Guoliang. 2024. Serine enrichment in tumors promotes regulatory T cell accumulation through sphinganine-mediated regulation of c-Fos. In Science immunology, 9, eadg8817. doi:10.1126/sciimmunol.adg8817. https://pubmed.ncbi.nlm.nih.gov/38640251/
7. Muthusamy, Thangaselvam, Cordes, Thekla, Handzlik, Michal K, Saghatelian, Alan, Metallo, Christian M. 2020. Serine restriction alters sphingolipid diversity to constrain tumour growth. In Nature, 586, 790-795. doi:10.1038/s41586-020-2609-x. https://pubmed.ncbi.nlm.nih.gov/32788725/
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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