C57BL/6JCya-Syt1em1flox/Cya
Common Name:
Syt1-flox
Product ID:
S-CKO-05495
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Syt1-flox
Strain ID
CKOCMP-20979-Syt1-B6J-VA
Gene Name
Product ID
S-CKO-05495
Gene Alias
G630098F17Rik; SytI
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
10
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Syt1em1flox/Cya mice (Catalog S-CKO-05495) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000105276
NCBI RefSeq
NM_001252341
Target Region
Exon 6
Size of Effective Region
~1.1 kb
Detailed Document
Overview of Gene Research
Syt1, also known as Synaptotagmin-1, is a well-known calcium sensor. It plays a crucial role in mediating the release of calcium-triggered neurotransmitters during regular synaptic vesicle exocytosis, which is essential for synaptic neurotransmission [1,3]. It is also involved in processes like migrasome formation [2]. Dysfunction of Syt1 can lead to severe neurological impairment, and genetic variants are associated with SYT1-associated neurodevelopmental disorder [1].
In a study of SYT1-associated neurodevelopmental disorder, 11 patients with de novo heterozygous missense mutations in SYT1 were described. These mutations affected highly conserved residues in the SYT1 C2B domain. Phenotypic features included infantile hypotonia, congenital ophthalmic abnormalities, and childhood-onset hyperkinetic movement disorders. Functional impact assessment in wild-type mouse primary hippocampal cultures showed that mutant forms of SYT1 had various effects on neurotransmitter release kinetics, with the severity of the affected individuals' phenotypes mirroring the disturbance to synaptic vesicle kinetics [3]. Another study reported a 21-year-old woman with a novel SYT1 gene variant presenting a complex phenotype including severe intellectual disability, epilepsy, and motor stereotypies, expanding the known SYT1-related clinical phenotype [4]. STON2 variations, which affect its interaction with Syt1, lead to deficits in synaptic transmission and schizophrenia-like behaviors in knockin mice, suggesting Syt1's role in synaptic function related to schizophrenia [5].
In conclusion, Syt1 is essential for synaptic neurotransmission and other biological processes. Studies using models such as patient cases and knockin mice have revealed its significant role in SYT1-associated neurodevelopmental disorder and in synaptic dysfunction related to schizophrenia, providing insights into the underlying mechanisms of these diseases.
References:
1. Riggs, Edith, Shakkour, Zaynab, Anderson, Christopher L, Carney, Paul R. 2022. SYT1-Associated Neurodevelopmental Disorder: A Narrative Review. In Children (Basel, Switzerland), 9, . doi:10.3390/children9101439. https://pubmed.ncbi.nlm.nih.gov/36291375/
2. Han, Yiyang, Yu, Li. 2024. Calcium ions promote migrasome formation via Synaptotagmin-1. In The Journal of cell biology, 223, . doi:10.1083/jcb.202402060. https://pubmed.ncbi.nlm.nih.gov/38647453/
3. Baker, Kate, Gordon, Sarah L, Melland, Holly, Cousin, Michael A, Raymond, F Lucy. . SYT1-associated neurodevelopmental disorder: a case series. In Brain : a journal of neurology, 141, 2576-2591. doi:10.1093/brain/awy209. https://pubmed.ncbi.nlm.nih.gov/30107533/
4. Cesaroni, Carlo Alberto, Spagnoli, Carlotta, Baga, Margherita, Garavelli, Livia, Fusco, Carlo. 2023. Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review. In Molecular syndromology, 14, 493-497. doi:10.1159/000530586. https://pubmed.ncbi.nlm.nih.gov/38058756/
5. Ma, Yuanlin, Gao, Kai, Sun, Xiaoxuan, Zhang, Dai, Li, Jun. 2024. STON2 variations are involved in synaptic dysfunction and schizophrenia-like behaviors by regulating Syt1 trafficking. In Science bulletin, 69, 1458-1471. doi:10.1016/j.scib.2024.02.013. https://pubmed.ncbi.nlm.nih.gov/38402028/
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