C57BL/6NCya-Pkd2em1flox/Cya
Common Name:
Pkd2-flox
Product ID:
S-CKO-04312
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Pkd2-flox
Strain ID
CKOCMP-18764-Pkd2-B6N-VA
Gene Name
Product ID
S-CKO-04312
Gene Alias
C030034P18Rik; PC2; TRPP2
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
5
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Pkd2em1flox/Cya mice (Catalog S-CKO-04312) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000086831
NCBI RefSeq
NM_008861
Target Region
Exon 4~5
Size of Effective Region
~2.6 kb
Detailed Document
Overview of Gene Research
Pkd2, encoding polycystin-2, is a gene linked to autosomal dominant polycystic kidney disease (ADPKD) [2,3,4,5]. It functions as a cation channel, and is part of a complex with PKD1 to form a non-canonical transient receptor potential (TRP) channel architecture [1]. Pkd2 also plays a role in regulating calcium signaling [6].
Mutations in Pkd2 account for a proportion of ADPKD cases, with studies on Chinese patients identifying various Pkd2 gene variants and their associated clinical characteristics like age at diagnosis, presence of liver cysts, hypertension etc. [4]. In fission yeast, Pkd2 localizes to the endoplasmic reticulum and plasma membrane, regulating calcium signaling, with the C-terminal region playing a crucial role; human Pkd2 has some impact on calcium signaling in fission yeast but cannot fully substitute for yeast Pkd2 [6].
In conclusion, Pkd2 is essential for normal kidney function and its dysregulation due to mutations leads to ADPKD. Studies in model organisms like fission yeast help in understanding its localization and function, providing insights into the pathogenesis of ADPKD.
References：
1. Su, Qiang, Hu, Feizhuo, Ge, Xiaofei, Mei, Changlin, Shi, Yigong. 2018. Structure of the human PKD1-PKD2 complex. In Science (New York, N.Y.), 361, . doi:10.1126/science.aat9819. https://pubmed.ncbi.nlm.nih.gov/30093605/
2. Carrera, Paola, Calzavara, Silvia, Magistroni, Riccardo, Boletta, Alessandra, Ferrari, Maurizio. 2016. Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). In Scientific reports, 6, 30850. doi:10.1038/srep30850. https://pubmed.ncbi.nlm.nih.gov/27499327/
3. Kim, Do Yeon, Park, Jong Hoon. . Genetic Mechanisms of ADPKD. In Advances in experimental medicine and biology, 933, 13-22. doi:. https://pubmed.ncbi.nlm.nih.gov/27730431/
4. Xu, Dechao, Bian, Rongrong, Tuo, Suxin, Ma, Yiyi, Mei, Changlin. 2021. PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease. In Clinical genetics, 100, 340-347. doi:10.1111/cge.14008. https://pubmed.ncbi.nlm.nih.gov/34101167/
5. Reiterová, Jana, Tesař, Vladimír. 2022. Autosomal Dominant Polycystic Kidney Disease: From Pathophysiology of Cystogenesis to Advances in the Treatment. In International journal of molecular sciences, 23, . doi:10.3390/ijms23063317. https://pubmed.ncbi.nlm.nih.gov/35328738/
6. Koyano, Takayuki, Fujimoto, Takahiro, Onishi, Kaori, Fukushima, Masaki, Kume, Kazunori. 2023. Pkd2, mutations linking to autosomal dominant polycystic kidney disease, localizes to the endoplasmic reticulum and regulates calcium signaling in fission yeast. In Genes to cells : devoted to molecular & cellular mechanisms, 28, 811-820. doi:10.1111/gtc.13069. https://pubmed.ncbi.nlm.nih.gov/37723847/
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