huCFTR Mouse

Cystic Fibrosis (CF) is an autosomal recessive disorder causing severe damage to the lungs, digestive system, and other organs. It thickens mucus, sweat, and digestive fluids, blocking ducts and channels. The disease manifests as a persistent cough, hyperinflation of lung lobes, chronic nasal congestion, headaches, sleep disorders, digestive and reproductive system disorders, and nutritional and growth development disorders. CF is caused by mutations in the CF-transmembrane conductance regulator (CFTR) gene, which encodes a cAMP-dependent chloride ion channel protein. Abnormal CFTR function can cause transmembrane transport disorders of chloride ions and bicarbonate, leading to mucus obstruction in exocrine glands, and affecting respiration, digestion, endocrine, and reproduction ^[1-2].

Current CF treatment research primarily focuses on small-molecule drugs, but gene therapy-related pipelines are emerging. Eluforsen, a Phase 1 ASO-related pipeline by ProQR, targets the F508dcl mutation region of the CFTR gene to restore its function ^[3-4]. Most gene therapies act on the human CFTR gene, and humanizing mouse genes could expedite these treatments into clinical stages, emphasizing precision in therapeutic development. This strain is a mouse Cftr gene humanized model and can be used for research on CF. The homozygous huCFTR mice are viable and fertile. In addition, based on the independently developed TurboKnockout fusion BAC recombination technology, Cyagen can also generate hot mutation models based on this strain and provide customized services for specific mutations to meet the experimental needs in pharmacology and other fields.