C57BL/6JCya-Stxbp1em1flox/Cya
Common Name:
Stxbp1-flox
Product ID:
S-CKO-05418
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Stxbp1-flox
Strain ID
CKOCMP-20910-Stxbp1-B6J-VA
Gene Name
Product ID
S-CKO-05418
Gene Alias
MMS10-G; Ms10g; Munc-18a; Munc18-1; N-sec1; Rb-sec1; Sxtbp1; Unc18-1; Unc18h; nsec1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Stxbp1em1flox/Cya mice (Catalog S-CKO-05418) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000077458
NCBI RefSeq
NM_001113569
Target Region
Exon 3
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
Stxbp1, also known as syntaxin-binding protein 1 or Munc18-1, is an essential protein for presynaptic vesicle release. It is involved in synaptic vesicle fusion and neurotransmitter release, playing a crucial role in neuronal communication [3]. Mutations in Stxbp1 have been associated with a series of (epileptic) neurodevelopmental disorders collectively referred to as Stxbp1-encephalopathy (Stxbp1-E) [4].
De novo Stxbp1 mutations are among the most frequent causes of epilepsy and encephalopathy. Most patients with Stxbp1-E have severe to profound intellectual disability, and 95% have epilepsy. Seizure severity and intellectual disability seem to be two independent dimensions of the phenotype. Neurologic comorbidities like autistic features and movement disorders are common [1]. In a study of 534 individuals with Stxbp1-related disorders, neurodevelopmental abnormalities were seen in 95% and seizures in 89%, with focal-onset seizures being the most common. Over 88% had seizure onset in the first year of life [2].
In conclusion, Stxbp1 is vital for presynaptic function and neurotransmitter release, with its disruption leading to various neurodevelopmental and epileptic disorders. The study of Stxbp1-related disorders through patient-based research has provided insights into the complex phenotypes associated with its mutations, which is crucial for understanding the disease mechanisms and developing potential therapeutic strategies for these severe conditions.
References:
1. Stamberger, Hannah, Nikanorova, Marina, Willemsen, Marjolein H, Møller, Rikke S, Weckhuysen, Sarah. 2016. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. In Neurology, 86, 954-62. doi:10.1212/WNL.0000000000002457. https://pubmed.ncbi.nlm.nih.gov/26865513/
2. Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M, Striano, Pasquale, Helbig, Ingo. . Assessing the landscape of STXBP1-related disorders in 534 individuals. In Brain : a journal of neurology, 145, 1668-1683. doi:10.1093/brain/awab327. https://pubmed.ncbi.nlm.nih.gov/35190816/
3. Goss, James R, Prosser, Benjamin, Helbig, Ingo, Son Rigby, Charlene. 2024. STXBP1: fast-forward to a brighter future - a patient organization perspective. In Therapeutic advances in rare disease, 5, 26330040241257221. doi:10.1177/26330040241257221. https://pubmed.ncbi.nlm.nih.gov/38898886/
4. Stamberger, Hannah, Weckhuysen, Sarah, De Jonghe, Peter. 2017. STXBP1 as a therapeutic target for epileptic encephalopathy. In Expert opinion on therapeutic targets, 21, 1027-1036. doi:10.1080/14728222.2017.1386175. https://pubmed.ncbi.nlm.nih.gov/28971703/
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