C57BL/6JCya-Sgcbem1flox/Cya
Common Name:
Sgcb-flox
Product ID:
S-CKO-08261
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Sgcb-flox
Strain ID
CKOCMP-24051-Sgcb-B6J-VA
Gene Name
Product ID
S-CKO-08261
Gene Alias
43DAG; beta-SG
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
5
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Sgcbem1flox/Cya mice (Catalog S-CKO-08261) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000081170
NCBI RefSeq
NM_011890
Target Region
Exon 3~5
Size of Effective Region
~2.1 kb
Detailed Document
Overview of Gene Research
Sgcb, encoding β -sarcoglycan, is one of the genes in the sarcoglycan family. The proteins encoded by Sgca, Sgcb, Sgcg, and Sgcd form part of the dystrophin-glycoprotein complex (DGC) in the muscle sarcolemma. The DGC acts as a linker between the muscle fiber cytoskeleton and the extracellular matrix, providing mechanical support during myofiber contraction [1].
Mutations in Sgcb cause limb-girdle muscular dystrophy type R4/2E. A study performed deep mutational scanning of Sgcb and found that variant functional scores were bimodally distributed and could predict pathogenicity of known variants, with less severe scores related to slower disease progression [2]. Another study developed a gene therapy based on adeno-associated virus for limb-girdle muscular dystrophy 2E/R4 caused by Sgcb mutations. Interim results showed robust Sgcb expression and preliminary motor improvements [3].
In conclusion, Sgcb is crucial for maintaining the integrity of the muscle sarcolemma through its role in the DGC. Research on Sgcb-related limb-girdle muscular dystrophy has led to the development of potential gene therapies, highlighting the importance of understanding Sgcb function for treating this disease [1,2,3].
References:
1. Vainzof, Mariz, Souza, Lucas S, Gurgel-Giannetti, Juliana, Zatz, Mayana. 2021. Sarcoglycanopathies: an update. In Neuromuscular disorders : NMD, 31, 1021-1027. doi:10.1016/j.nmd.2021.07.014. https://pubmed.ncbi.nlm.nih.gov/34404573/
2. Li, Chengcheng, Wilborn, Jackson, Pittman, Sara, Weihl, Conrad C, Haller, Gabe. 2023. Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E. In The Journal of clinical investigation, 133, . doi:10.1172/JCI168156. https://pubmed.ncbi.nlm.nih.gov/37317968/
3. Mendell, Jerry R, Pozsgai, Eric R, Lewis, Sarah, Stevenson, Herb, Rodino-Klapac, Louise R. 2024. Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results. In Nature medicine, 30, 199-206. doi:10.1038/s41591-023-02730-9. https://pubmed.ncbi.nlm.nih.gov/38177855/
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