C57BL/6JCya-Sgms2em1flox/Cya
Common Name:
Sgms2-flox
Product ID:
S-CKO-16009
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Sgms2-flox
Strain ID
CKOCMP-74442-Sgms2-B6J-VA
Gene Name
Product ID
S-CKO-16009
Gene Alias
4933405A16Rik; 5133401H06Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
3
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Sgms2em1flox/Cya mice (Catalog S-CKO-16009) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000090246
NCBI RefSeq
NM_028943
Target Region
Exon 3
Size of Effective Region
~2.3 kb
Detailed Document
Overview of Gene Research
Sgms2, encoding sphingomyelin synthase 2 (SMS2), is an enzyme involved in the production of sphingomyelin (SM), a key lipid component of the plasma membrane. SM metabolism, regulated by Sgms2, is crucial for signal transduction and has important implications in skeletal and neural tissues [1].
Pathogenic heterozygous variants in Sgms2 lead to a spectrum of skeletal conditions. In some families, Sgms2 variants cause childhood-onset osteoporosis with low bone mineral density, sclerotic doughnut-shaped lesions in the skull, or a more severe spondylometaphyseal dysplasia with neonatal fractures, long-bone deformities, and short stature. Some patients also experience neurological manifestations such as peripheral facial nerve palsy. Bone biopsies from affected individuals show defective bone mineralization, altered bone material characteristics, and abnormal osteocyte lacunocanalicular network [1,2,3,4,5].
In conclusion, Sgms2 is essential for sphingomyelin metabolism and plays a critical role in maintaining skeletal homeostasis. Research on Sgms2-related disorders helps to understand the molecular mechanisms underlying early-onset osteoporosis and skeletal dysplasia, potentially guiding the development of targeted therapies for these bone-related diseases.
References:
1. Pihlström, Sandra, Richardt, Sampo, Määttä, Kirsi, Mäkitie, Outi, Mäkitie, Riikka E. 2023. SGMS2 in primary osteoporosis with facial nerve palsy. In Frontiers in endocrinology, 14, 1224318. doi:10.3389/fendo.2023.1224318. https://pubmed.ncbi.nlm.nih.gov/37886644/
2. Pekkinen, Minna, Terhal, Paulien A, Botto, Lorenzo D, Holthuis, Joost Cm, Mäkitie, Outi. 2019. Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. In JCI insight, 4, . doi:10.1172/jci.insight.126180. https://pubmed.ncbi.nlm.nih.gov/30779713/
3. Merkuryeva, Elena, Markova, Tatiana, Tyurin, Anton, Dadali, Elena, Kutsev, Sergey. 2023. Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant. In International journal of molecular sciences, 24, . doi:10.3390/ijms24098021. https://pubmed.ncbi.nlm.nih.gov/37175737/
4. Robinson, Marie-Eve, Bardai, Ghalib, Veilleux, Louis-Nicolas, Glorieux, Francis H, Rauch, Frank. 2020. Musculoskeletal phenotype in two unrelated individuals with a recurrent nonsense variant in SGMS2. In Bone, 134, 115261. doi:10.1016/j.bone.2020.115261. https://pubmed.ncbi.nlm.nih.gov/32028018/
5. Mäkitie, Riikka E, Blouin, Stéphane, Välimäki, Ville-Valtteri, Mäkitie, Outi, Hartmann, Markus A. 2021. Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early-Onset Osteoporosis Due to SGMS2 Mutations. In JBMR plus, 5, e10537. doi:10.1002/jbm4.10537. https://pubmed.ncbi.nlm.nih.gov/34761145/
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