C57BL/6JCya-Cys1em1/Cya
Common Name:
Cys1-KO
Product ID:
S-KO-17118
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Cys1-KO
Strain ID
KOCMP-12879-Cys1-B6J-VA
Gene Name
Product ID
S-KO-17118
Gene Alias
2900006B19Rik; Ccap; ck; cpk
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
12
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Cys1em1/Cya mice (Catalog S-KO-17118) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000189849
NCBI RefSeq
NM_138686
Target Region
Exon 1
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Cys1 is a gene associated with autosomal recessive polycystic kidney disease (ARPKD). Mutations in Cys1, along with PKHD1 and DZIP1L, can cause this disease [1]. ARPKD is characterized by cyst development in the kidney due to defects in primary cilia function [1]. The protein encoded by Cys1, cystin, may play a role in renal tubular differentiation and the associated gene regulatory network [2].
In mice, disruption of the transcription factor Tfap2b leads to a phenotype resembling ARPKD, with cystic dilatation of the kidney distal tubules and collecting ducts [2]. Tfap2b binds to the upstream regulatory regions of both Pkhd1 and Cys1, activating their promoters, suggesting that it participates in a renal epithelial cell gene regulatory network including these two genes [2]. Disrupting this network impairs renal tubular differentiation, causing ductal dilatation, the hallmark of recessive PKD [2].
In conclusion, Cys1 is a minor gene involved in ARPKD. Studies in mouse models, especially those related to the role of Tfap2b in regulating Cys1, have enhanced our understanding of how disruptions in the gene regulatory network involving Cys1 can lead to the development of ARPKD. This contributes to the knowledge of the disease mechanism and may potentially aid in the development of targeted therapies for ARPKD.
References:
1. Yang, Hana, Sieben, Cynthia J, Schauer, Rachel S, Harris, Peter C. . Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes. In Advances in kidney disease and health, 30, 397-406. doi:10.1053/j.akdh.2023.04.004. https://pubmed.ncbi.nlm.nih.gov/38097330/
2. Wu, Maoqing, Harafuji, Naoe, O'Connor, Amber K, Caldovic, Ljubica, Guay-Woodford, Lisa M. 2023. Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes, Pkhd1 and Cys1. In Frontiers in molecular biosciences, 9, 946344. doi:10.3389/fmolb.2022.946344. https://pubmed.ncbi.nlm.nih.gov/36710876/
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