Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences

Figure 2

Classification of CFTR mutations. In healthy CFTR sufficient cells, the functional CFTR protein is correctly trafficked to the plasma membrane. Class I mutations result in a lack of CFTR protein synthesis. Class II mutations block CFTR processing, where misfolded protein is degraded in the ER. Class III mutations affect the regulation of the CFTR, where the CFTR channel is less functional. Class IV mutations alter the CFTR conductance of Cl⁻. Class V mutations lead to reduced synthesis of functional CFTR. Class VI mutations result in accelerated turnover of CFTR protein on the cell surface.