C57BL/6JCya-Plcb3em1flox/Cya
Common Name:
Plcb3-flox
Product ID:
S-CKO-04335
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Plcb3-flox
Strain ID
CKOCMP-18797-Plcb3-B6J-VA
Gene Name
Product ID
S-CKO-04335
Gene Alias
mKIAA4098
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
19
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Plcb3em1flox/Cya mice (Catalog S-CKO-04335) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000025912
NCBI RefSeq
NM_001290349
Target Region
Exon 2~10
Size of Effective Region
~3.1 kb
Detailed Document
Overview of Gene Research
Plcb3, or Phosphoinositide phospholipase C-beta-3, is an enzyme that converts phosphatidylinositol 4,5 bisphosphate (PIP2) to inositol 1,4,5 triphosphate (IP3) and diacylglycerol, playing a key role in phosphoinositide signalling [4]. It is involved in multiple biological processes and pathways, such as being a key player in hyperkeratosis [1], and is associated with Toll-like receptor's inflammatory signaling cascade in cystic fibrosis bronchial epithelial cells [2].
A homozygous loss-of-function variant in Plcb3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy and developmental delay (SMDCD), as it disrupts the binding of a key element to the catalytic core, destabilizes Plcb3, and leads to elevated PIP2 levels in patient fibroblasts, causing F-actin cytoskeleton disorganisation [4]. In cystic fibrosis, the c.2534C>T (p.S845L) loss-of-function variant of Plcb3 reduces Pseudomonas aeruginosa -dependent IL-8 release from bronchial epithelial cells, indicating its role in modulating the inflammatory response [2]. In colorectal cancer, high expression of Plcb3 is correlated with poorer prognosis, and its knockdown inhibits cell progression. Cetuximab treatment reduces both β-catenin and Plcb3 expression, suggesting Plcb3's role in promoting cetuximab-mediated inhibition of the Wnt/β-catenin signaling pathway [3].
In conclusion, Plcb3 is essential in phosphoinositide signalling and is associated with various diseases. Its role in conditions like SMDCD, cystic fibrosis, and colorectal cancer has been revealed through functional studies, highlighting its significance in understanding disease mechanisms. The findings from these studies contribute to the exploration of potential therapeutic targets related to these diseases.
References:
1. Wang, Yumeng, Zhao, Anqi, Zhou, Naihui, Li, Ming, Li, Min. 2024. OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome. In Biochimica et biophysica acta. Molecular basis of disease, 1870, 167207. doi:10.1016/j.bbadis.2024.167207. https://pubmed.ncbi.nlm.nih.gov/38701954/
2. Rimessi, Alessandro, Bezzerri, Valentino, Salvatori, Francesca, Pinton, Paolo, Cabrini, Giulio. . PLCB3 Loss of Function Reduces Pseudomonas aeruginosa-Dependent IL-8 Release in Cystic Fibrosis. In American journal of respiratory cell and molecular biology, 59, 428-436. doi:10.1165/rcmb.2017-0267OC. https://pubmed.ncbi.nlm.nih.gov/29668297/
3. Zhang, Xiaohong, Zhou, Wenming, Wu, Chenqu, Cheng, Xun, Zhang, Xingxing. 2024. Cetuximab inhibits colorectal cancer development through inactivating the Wnt/β-catenin pathway and modulating PLCB3 expression. In Scientific reports, 14, 10642. doi:10.1038/s41598-024-59676-2. https://pubmed.ncbi.nlm.nih.gov/38724565/
4. Ben-Salem, Salma, Robbins, Sarah M, Lm Sobreira, Nara, Ali, Bassam R, Al-Gazali, Lihadh. 2017. Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. In Journal of medical genetics, 55, 122-130. doi:10.1136/jmedgenet-2017-104827. https://pubmed.ncbi.nlm.nih.gov/29122926/
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