C57BL/6JCya-Stx1aem1flox/Cya
Common Name:
Stx1a-flox
Product ID:
S-CKO-05414
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Stx1a-flox
Strain ID
CKOCMP-20907-Stx1a-B6J-VA
Gene Name
Product ID
S-CKO-05414
Gene Alias
HPC-1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
5
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Stx1aem1flox/Cya mice (Catalog S-CKO-05414) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000005509
NCBI RefSeq
NM_016801
Target Region
Exon 2~3
Size of Effective Region
~1.9 kb
Detailed Document
Overview of Gene Research
Stx1a, also known as Shiga Toxin Type 1a, is a potent bacterial toxin. It is found in Shigella dysenteriae 1 and some serogroups of Escherichia coli. Stx1a consists of an A subunit that halts protein synthesis in target cells by injuring the eukaryotic ribosome, and a B pentamer that binds to the cellular receptor globotriaosylceramide, Gb3, mainly on endothelial cells. The toxin traffics in a retrograde manner within the cell [3].
Heterozygous and homozygous variants in STX1A can cause a neurodevelopmental disorder with or without epilepsy. Missense variants in STX1A are mainly associated with epilepsy, while inframe deletions lead to intellectual disability and autistic behavior. In silico modeling shows different impaired protein-protein interactions for these variants, suggesting two different pathogenic mechanisms [1]. A case-control study in the Chinese Han population found that STX1A gene variations contribute to the susceptibility of children attention-deficit/hyperactivity disorder (ADHD). Specific single nucleotide polymorphisms (SNPs) of STX1A were associated with ADHD and its clinical characteristics [2]. In addition, STX1A has been associated with Asperger syndrome, with certain SNPs showing a significant association [4].
In conclusion, Stx1a, as a bacterial toxin, has a well-defined structure and function related to its role in bacterial pathogenesis. In the context of human health, genetic variations in STX1A are associated with neurodevelopmental disorders such as epilepsy, intellectual disability, autism-related behaviors, ADHD, and Asperger syndrome. These associations help in understanding the role of STX1A in normal neurodevelopment and the pathogenesis of these disorders.
References:
1. Luppe, Johannes, Sticht, Heinrich, Lecoquierre, François, Abou Jamra, Rami, Platzer, Konrad. 2022. Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. In European journal of human genetics : EJHG, 31, 345-352. doi:10.1038/s41431-022-01269-6. https://pubmed.ncbi.nlm.nih.gov/36564538/
2. Wang, Min, Gu, Xue, Huang, Xin, Chen, Xinzhen, Wu, Jing. 2019. STX1A gene variations contribute to the susceptibility of children attention-deficit/hyperactivity disorder: a case-control association study. In European archives of psychiatry and clinical neuroscience, 269, 689-699. doi:10.1007/s00406-019-01010-3. https://pubmed.ncbi.nlm.nih.gov/30976917/
3. Melton-Celsa, Angela R. . Shiga Toxin (Stx) Classification, Structure, and Function. In Microbiology spectrum, 2, EHEC-0024-2013. doi:10.1128/microbiolspec.EHEC-0024-2013. https://pubmed.ncbi.nlm.nih.gov/25530917/
4. Durdiaková, Jaroslava, Warrier, Varun, Banerjee-Basu, Sharmila, Baron-Cohen, Simon, Chakrabarti, Bhismadev. 2014. STX1A and Asperger syndrome: a replication study. In Molecular autism, 5, 14. doi:10.1186/2040-2392-5-14. https://pubmed.ncbi.nlm.nih.gov/24548729/
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