C57BL/6JCya-Chrnb1em1flox/Cya
Common Name:
Chrnb1-flox
Product ID:
S-CKO-00981
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Chrnb1-flox
Strain ID
CKOCMP-11443-Chrnb1-B6J-VA
Gene Name
Product ID
S-CKO-00981
Gene Alias
Achr-2; Acrb
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Chrnb1em1flox/Cya mice (Catalog S-CKO-00981) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000045971
NCBI RefSeq
NM_009601
Target Region
Exon 4~7
Size of Effective Region
~2.6 kb
Detailed Document
Overview of Gene Research
Chrnb1, the cholinergic receptor nicotinic beta 1 subunit gene, encodes the β subunit of the acetylcholine receptor (AChR) at the neuromuscular junction [1,2,3]. The AChR is crucial for neuromuscular signal transmission, with its proper function being essential for normal muscle movement. Defects in Chrnb1 can disrupt this process, leading to various neuromuscular disorders [1,2].
Inherited defects in Chrnb1 can result in congenital myasthenia syndrome (CMS), a clinically and genetically heterogeneous group of disorders [1,2]. Some patients with biallelic Chrnb1 variants may present with lethal fetal akinesia deformation sequence (FADS), at the severe end of the CMS spectrum [1]. In Red dairy cattle, a Chrnb1 frameshift mutation was associated with familial arthrogryposis multiplex congenita, suggesting a similar role of Chrnb1-related neuromuscular disorders across species [3].
In conclusion, Chrnb1 is vital for normal neuromuscular function by encoding a key subunit of the AChR. Research on Chrnb1-associated disorders, such as CMS and related phenotypes in animal models like cattle, helps to understand the molecular mechanisms underlying these neuromuscular diseases, potentially guiding diagnosis and treatment development.
References:
1. Freed, Amanda S, Schwarz, Anisha C, Brei, Brianna K, Innes, A Micheil, Bennett, James T. 2020. CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum. In American journal of medical genetics. Part A, 185, 827-835. doi:10.1002/ajmg.a.62011. https://pubmed.ncbi.nlm.nih.gov/33296147/
2. Ohno, Kinji, Ohkawara, Bisei, Shen, Xin-Ming, Selcen, Duygu, Engel, Andrew G. 2023. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review. In International journal of molecular sciences, 24, . doi:10.3390/ijms24043730. https://pubmed.ncbi.nlm.nih.gov/36835142/
3. Agerholm, Jørgen S, McEvoy, Fintan J, Menzi, Fiona, Jagannathan, Vidhya, Drögemüller, Cord. 2016. A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle. In BMC genomics, 17, 479. doi:10.1186/s12864-016-2832-x. https://pubmed.ncbi.nlm.nih.gov/27364156/
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