C57BL/6JCya-Poc5em1flox/Cya
Common Name:
Poc5-flox
Product ID:
S-CKO-18741
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Poc5-flox
Strain ID
CKOCMP-67463-Poc5-B6J-VB
Gene Name
Product ID
S-CKO-18741
Gene Alias
1200014M14Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
13
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Poc5em1flox/Cya mice (Catalog S-CKO-18741) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000099295
NCBI RefSeq
NM_026173
Target Region
Exon 4
Size of Effective Region
~1.4 kb
Detailed Document
Overview of Gene Research
POC5, the Proteome Of Centriole 5 protein-encoding gene, is a centriolar protein crucial for cell cycle progression, centriole elongation, and basal body maturation [1,2]. It binds centrins through Sfi1p-like repeats and is part of the luminal scaffold that stabilizes centrioles, playing a significant role in cilia-related biological processes [2,4].
POC5 has been strongly associated with adolescent idiopathic scoliosis (AIS). Mutations in POC5, such as p.(A429V), p.(A446T), and p.(A455P), are more prevalent in AIS patients compared to the general population [3]. The AIS-related POC5A429V mutation impairs cell-cycle progression, induces ciliary retraction, and disrupts centrosome protein interactions [5]. In zebrafish models, expression of human IS-associated POC5 variant mRNAs leads to spine deformity [6]. Also, in Tetrahymena, complete genomic knockout of TtPOC5 results in increased basal body production but reduced ciliary density [2].
In conclusion, POC5 is essential for normal centriole and cilia function. Its study, especially through gene-knockout models in zebrafish and Tetrahymena, has revealed its significance in AIS pathogenesis. Understanding POC5's role provides insights into the molecular mechanisms underlying AIS and potentially other cilia-related disorders.
References:
1. Hassan, Amani, Bagu, Edward T, Patten, Shunmoogum A, Tremblay, André, Moldovan, Florina. 2023. Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells. In Genes, 14, . doi:10.3390/genes14051111. https://pubmed.ncbi.nlm.nih.gov/37239471/
2. Heydeck, Westley, Bayless, Brian A, Stemm-Wolf, Alexander J, Nguyen, Marina, Winey, Mark. 2020. Tetrahymena Poc5 is a transient basal body component that is important for basal body maturation. In Journal of cell science, 133, . doi:10.1242/jcs.240838. https://pubmed.ncbi.nlm.nih.gov/32350068/
3. Mathieu, Hélène, Spataru, Aurélia, Aragon-Martin, José Antonio, Parent, Stefan, Moldovan, Florina. 2021. Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort. In Genes, 12, . doi:10.3390/genes12071032. https://pubmed.ncbi.nlm.nih.gov/34356048/
4. Tsekitsidou, Eirini, Wong, Cassandra J, Ulengin-Talkish, Idil, Wang, Jennifer T, Cyert, Martha S. 2023. Calcineurin associates with centrosomes and regulates cilia length maintenance. In Journal of cell science, 136, . doi:10.1242/jcs.260353. https://pubmed.ncbi.nlm.nih.gov/37013443/
5. Hassan, Amani, Parent, Stefan, Mathieu, Hélène, Patten, Shunmoogum A, Moldovan, Florina. 2019. Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions. In PloS one, 14, e0213269. doi:10.1371/journal.pone.0213269. https://pubmed.ncbi.nlm.nih.gov/30845169/
6. Patten, Shunmoogum A, Margaritte-Jeannin, Patricia, Bernard, Jean-Claude, Moldovan, Florina, Edery, Patrick. 2015. Functional variants of POC5 identified in patients with idiopathic scoliosis. In The Journal of clinical investigation, 125, 1124-8. doi:10.1172/JCI77262. https://pubmed.ncbi.nlm.nih.gov/25642776/
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