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C57BL/6JCya-Bscl2em1flox/Cya
Common Name:
Bscl2-flox
Product ID:
S-CKO-02692
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Price:
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Basic Information
Strain Name
Bscl2-flox
Strain ID
CKOCMP-14705-Bscl2-B6J-VA
Gene Name
Bscl2
Product ID
S-CKO-02692
Gene Alias
2900097C17Rik; Gng3lg
Background
C57BL/6JCya
NCBI ID
14705
Modification
Conditional knockout
Chromosome
19
Phenotype
MGI:1298392
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Bscl2em1flox/Cya mice (Catalog S-CKO-02692) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000171649
NCBI RefSeq
NM_001136064
Target Region
Exon 4~5
Size of Effective Region
~2.8 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Bscl2, encoding seipin, is a gene of great significance. Seipin is a transmembrane endoplasmic reticulum protein. It is mainly expressed in the central nervous system in humans and is associated with adipose tissue homeostasis, adipocyte differentiation, and lipid droplet morphology [1,2]. Genetic models, like KO mouse models, are valuable in studying Bscl2's functions.

Bscl2 -/- mice develop severe lipodystrophy, with only residual white and brown fat pads, validating seipin's critical role in adipose tissue homeostasis. They are also diabetic and display severe hepatic steatosis. Treatment with thiazolidinediones (TZD) increases adipose tissue mass and partially rescues metabolic complications, highlighting lipoatrophy as the major cause of the BSCL phenotype [2]. Mice with cardiomyocyte-specific deletion of Bscl2 (Bscl2cKO) develop systolic dysfunction with dilation, along with elevated ATGL expression, increased fatty acid oxidation, and reduced cardiac lipid contents. Their cardiac dysfunction can be partially reversed by a fatty acid oxidation inhibitor or prevented by certain genetic or dietary interventions [3]. A murine model for the aberrant human transcript of BSCL2 (Bscl2Celia/Celia) shows severe neurological symptoms, lipodystrophy, and mild hepatic steatosis in some affected animals, along with a reduction in brain glucose uptake and loss of Purkinje cells [4].

In conclusion, Bscl2 plays essential roles in adipogenesis, lipid droplet homeostasis, cellular triglyceride lipolysis, and cardiac lipid catabolism and contractile function. The study of Bscl2 through KO/CKO mouse models has provided insights into diseases such as Berardinelli-Seip congenital lipodystrophy, Celia's encephalopathy, and associated cardiac disorders, helping to understand the pathophysiology and potentially develop treatment strategies.

References:
1. Sánchez-Iglesias, Sofía, Fernández-Pombo, Antía, Cobelo-Gómez, Silvia, Requena, Jesús R, Araújo-Vilar, David. 2021. Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding. In Journal of clinical medicine, 10, . doi:10.3390/jcm10071435. https://pubmed.ncbi.nlm.nih.gov/33916074/
2. Dollet, Lucile, Magré, Jocelyne, Cariou, Bertrand, Prieur, Xavier. 2013. Function of seipin: new insights from Bscl2/seipin knockout mouse models. In Biochimie, 96, 166-72. doi:10.1016/j.biochi.2013.06.022. https://pubmed.ncbi.nlm.nih.gov/23831461/
3. Zhou, Hongyi, Li, Jie, Su, Huabo, Young, Martin E, Chen, Weiqin. . BSCL2/Seipin deficiency in hearts causes cardiac energy deficit and dysfunction via inducing excessive lipid catabolism. In Clinical and translational medicine, 12, e736. doi:10.1002/ctm2.736. https://pubmed.ncbi.nlm.nih.gov/35384404/
4. Cobelo-Gómez, Silvia, Sánchez-Iglesias, Sofía, Rábano, Alberto, San Millán, Beatriz, Araújo-Vilar, David. 2023. A murine model of BSCL2-associated Celia's encephalopathy. In Neurobiology of disease, 187, 106300. doi:10.1016/j.nbd.2023.106300. https://pubmed.ncbi.nlm.nih.gov/37717662/
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
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