C57BL/6JCya-Nrxn1em1flox/Cya
Common Name:
Nrxn1-flox
Product ID:
S-CKO-19578
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Nrxn1-flox
Strain ID
CKOCMP-18189-Nrxn1-B6J-VB
Gene Name
Product ID
S-CKO-19578
Gene Alias
1700062G21Rik; 9330127H16Rik; A230068P09Rik; mKIAA0578
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
17
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Nrxn1em1flox/Cya mice (Catalog S-CKO-19578) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000160844
NCBI RefSeq
NM_020252
Target Region
Exon 6~8
Size of Effective Region
~4.1 kb
Detailed Document
Overview of Gene Research
Nrxn1, short for neurexin-1, is a gene encoding presynaptic cell adhesion molecules crucial for synaptogenesis and vesicular neurotransmitter release [5]. Neurexins are involved in the formation, establishment of synaptic structure, and maintenance of synaptic function, playing a vital role in neural connectivity [6].
Heterozygous deletions of Nrxn1 are associated with a diverse spectrum of phenotypes including autism spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, seizures, schizophrenia, mood disorders, and congenital malformations [1]. The clinical features of Nrxn1-related disorders are heterogeneous, mainly consisting of undistinctive facial dysmorphism, intellectual and speech delay, epileptic seizures, and motor dysfunction [2]. Studies on NRXN1 deletions in human brain organoids have shown impacts on molecular pathways related to ubiquitin-proteasome system, alternative splicing, and synaptic signaling in maturing neurons, leading to synaptic dysfunction [4].
In conclusion, Nrxn1 is essential for synaptic function and neural connectivity. Its deletions are linked to multiple neurodevelopmental, psychiatric, and neurological disorders. Research on Nrxn1, especially through models like human brain organoids with deletions, helps in understanding the complex genetic underpinnings of these disorders and may potentially lead to novel therapeutic strategies [3].
References:
1. Al Shehhi, Maryam, Forman, Eva B, Fitzgerald, Jacqueline E, Gallagher, Louise, Lynch, Sally A. 2018. NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families. In European journal of medical genetics, 62, 204-209. doi:10.1016/j.ejmg.2018.07.015. https://pubmed.ncbi.nlm.nih.gov/30031152/
2. Pavone, Piero, Pappalardo, Xena Giada, Parano, Claudia, Polizzi, Agata, Ruggieri, Martino. 2024. NRXN1-related disorders, attempt to better define clinical assessment. In Open medicine (Warsaw, Poland), 19, 20240979. doi:10.1515/med-2024-0979. https://pubmed.ncbi.nlm.nih.gov/39655047/
3. Cooper, Jaimee N, Mittal, Jeenu, Sangadi, Akhila, Mittal, Rahul, Eshraghi, Adrien A. 2024. Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review. In Journal of clinical medicine, 13, . doi:10.3390/jcm13072067. https://pubmed.ncbi.nlm.nih.gov/38610832/
4. Sebastian, Rebecca, Jin, Kang, Pavon, Narciso, Aronow, Bruce, Pak, ChangHui. 2023. Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids. In Nature communications, 14, 3770. doi:10.1038/s41467-023-39420-6. https://pubmed.ncbi.nlm.nih.gov/37355690/
5. Castronovo, Paola, Baccarin, Marco, Ricciardello, Arianna, Sacco, Roberto, Persico, Antonio M. 2019. Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review. In Clinical genetics, 97, 125-137. doi:10.1111/cge.13537. https://pubmed.ncbi.nlm.nih.gov/30873608/
6. Hu, Zhonghua, Xiao, Xiao, Zhang, Zhuohua, Li, Ming. 2019. Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders. In Molecular psychiatry, 24, 1400-1414. doi:10.1038/s41380-019-0438-9. https://pubmed.ncbi.nlm.nih.gov/31138894/
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