C57BL/6JCya-Smn1em1flox/Cya
Common Name:
Smn1-flox
Product ID:
S-CKO-19200
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Smn1-flox
Strain ID
CKOCMP-20595-Smn1-B6J-VB
Gene Name
Product ID
S-CKO-19200
Gene Alias
Gemin1; Smn
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
13
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Smn1em1flox/Cya mice (Catalog S-CKO-19200) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000022147
NCBI RefSeq
NM_011420
Target Region
Exon 2~8
Size of Effective Region
~9.7 kb
Detailed Document
Overview of Gene Research
Smn1, or survival motor neuron 1 gene, is crucial as it produces the SMN protein, which is essential for the development and survival of motor neurons [2,4]. Spinal muscular atrophy (SMA), a leading cause of early infant death, is caused by bi-allelic mutations of SMN1 [1].
In SMA, loss or deletion of SMN1 leads to a severe and devastating neuromuscular disease [4]. Since SMA is caused by homozygous disruption of SMN1 by deletion, conversion, or mutation, genetic testing of SMN1 has enabled precise epidemiological studies [3,5]. These studies have revealed that SMA occurs in 1 of 10,000 to 20,000 live births, and more than 95% of affected patients are homozygous for SMN1 deletion [3].
Currently, several therapies target the restoration of SMN protein production, either by enhancing the function of the SMN2 gene (a homologue of SMN1) or by direct replacement of the SMN1 gene [6].
In conclusion, SMN1 is essential for motor neuron development and survival. Research on SMN1 through genetic models has been pivotal in understanding the pathogenesis of SMA. The insights from these studies have led to the development of novel therapies aiming to treat this severe neuromuscular disorder.
References：
1. Chen, Xiao, Harting, John, Farrow, Emily, Pastinen, Tomi, Eberle, Michael A. 2023. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. In American journal of human genetics, 110, 240-250. doi:10.1016/j.ajhg.2023.01.001. https://pubmed.ncbi.nlm.nih.gov/36669496/
2. Butchbach, Matthew E R. 2021. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. In International journal of molecular sciences, 22, . doi:10.3390/ijms22157896. https://pubmed.ncbi.nlm.nih.gov/34360669/
3. Nishio, Hisahide, Niba, Emma Tabe Eko, Saito, Toshio, Takeshima, Yasuhiro, Awano, Hiroyuki. 2023. Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment. In International journal of molecular sciences, 24, . doi:10.3390/ijms241511939. https://pubmed.ncbi.nlm.nih.gov/37569314/
4. Reilly, Aoife, Chehade, Lucia, Kothary, Rashmi. 2022. Curing SMA: Are we there yet? In Gene therapy, 30, 8-17. doi:10.1038/s41434-022-00349-y. https://pubmed.ncbi.nlm.nih.gov/35614235/
5. Lunn, Mitchell R, Wang, Ching H. . Spinal muscular atrophy. In Lancet (London, England), 371, 2120-33. doi:10.1016/S0140-6736(08)60921-6. https://pubmed.ncbi.nlm.nih.gov/18572081/
6. Gowda, Vasantha Lakshmi, Fernandez-Garcia, Miguel A, Jungbluth, Heinz, Wraige, Elizabeth. 2022. New treatments in spinal muscular atrophy. In Archives of disease in childhood, 108, 511-517. doi:10.1136/archdischild-2021-323605. https://pubmed.ncbi.nlm.nih.gov/36316089/
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