B6-huCFTR*c.3718-2477C>T Mouse
Product Name
B6-huCFTR*c.3718-2477C>T Mouse
Product ID
C001880
Strain Name
C57BL/6NCya-Cftrtm3(hCFTR*c.3718-2477C>T)/Cya
Backgroud
C57BL/6NCya
Status
When using this mouse strain in a publication, please cite “B6-huCFTR*c.3718-2477C>T Mouse (Catalog C001880) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
Gene Alias
CF, MRP7, ABC35, ABCC7, CFTR/MRP, TNR-CFTR, dJ760C5.1
NCBI ID
Chromosome
Chr 7
MGI ID
Datasheet
Strain Description
The cystic fibrosis transmembrane conductance regulator (CFTR) is a critical protein that maintains the salt and water balance across various human organs, including the lungs, pancreas, and sweat glands. The primary function of CFTR is to act as a chloride channel, regulating the transport of chloride and bicarbonate ions across epithelial cell membranes, thereby maintaining tissue fluid balance and pH. This process is ATP-dependent and also modulates the activity of other ion channels and transport proteins [1-2]. Mutations in the CFTR gene can lead to chloride channel dysfunction, resulting in various diseases, with cystic fibrosis (CF) being the most common. CF is the most prevalent lethal genetic disease among Caucasians, with an incidence of approximately 1/2,500 to 1/1,800, and about 90,000 cases globally [3-4]. The disease is characterized by thickened mucus in the lungs, frequent respiratory infections, pancreatic insufficiency, and male infertility, typically due to vas deferens obstruction. The c.3718-2477C>T mutation is a relatively rare pathogenic cause of Cystic Fibrosis (CF). As a deep intronic variant, c.3718-2477C>T is classified as a splicing mutation, meaning its primary effect is likely to disrupt the normal process of mRNA splicing (the removal of non-coding introns and joining of coding exons) after transcription. This disruption can lead to a faulty or absent CFTR protein, ultimately resulting in the clinical manifestations of CF. Current treatments for CF mainly focus on CFTR modulators to restore the function of the mutated CFTR protein. CFTR modulators are classified into potentiators (which enhance CFTR function) and correctors (which assist in the proper folding and trafficking of CFTR to the cell membrane). Representative drugs include Ivacaftor, Lumacaftor, and triple-combination CFTR modulating therapy Elexacaftor-Tezacaftor-Ivacaftor [5].
B6-huCFTR*c.3718-2477C>T mice were developed by introducing the c.3718-2477C>T mutation into the CFTR-humanized mouse model (Catalog Number: C001964), creating a humanized disease model. It is suitable for research into CF mechanisms and the development of therapies targeting the CFTR c.3718-2477C>T mutation. This strain requires feeding with intestinal cleansers to maintain survival. In addition, based on the independently developed TurboKnockout fusion BAC recombination technology, Cyagen can also generate hot mutation models based on the CFTR-humanized strain and provide customized services for specific mutations to meet the experimental needs in pharmacology and other fields.
Reference
Corradi V, Vergani P, Tieleman DP. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR): CLOSED AND OPEN STATE CHANNEL MODELS. J Biol Chem. 2015 Sep 18;290(38):22891-906.
Csanády L, Vergani P, Gadsby DC. STRUCTURE, GATING, AND REGULATION OF THE CFTR ANION CHANNEL. Physiol Rev. 2019 Jan 1;99(1):707-738.
Chillón M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med. 1995 Jun 1;332(22):1475-80.
Grasemann H, Ratjen F. Cystic Fibrosis. N Engl J Med. 2023 Nov 2;389(18):1693-1707.
Valladares KN, Jones LI, Barnes JW, Krick S. Highly Effective Modulator Therapy: Implications for the Microbial Landscape in Cystic Fibrosis. Int J Mol Sci. 2024 Nov 5;25(22):11865.
Strain Strategy
Figure 1a. Gene editing strategy of B6-hCFTR wild-type humanized model (Catalog Number: C001964). The region from the 5'UTR to 3'UTR of the mouse Cftr gene was replaced with the 5'UTR to 3'UTR region of the human CFTR gene.
Figure 1b. Gene editing strategy of B6-huCFTR*c.3718-2477C>T mutation humanized model (Catalog Number: C001880). The c.3718-2477C>T mutation was introduced into intron 22 of the human CFTR gene in B6-hCFTR mice via gene editing technology.
Application Area
CFTR*c.3718-2477C>T-targeted drug screening, development, and evaluation;
Research on the pathological mechanisms and therapeutic approaches of cystic fibrosis.
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