Animal Models of Cystic Fibrosis Pathology: Phenotypic Parallels and Divergences

Table 1

Mouse models of cystic fibrosis.

Identifier	Mutation	Detectable CFTR mRNA	Salient features	Reference
CFTR	Exon 10 replacement	No detectable WT CFTR mRNA	Severe intestinal complications	[49]
CFTR	Exon 10 replacement	No detectable WT CFTR mRNA	Pancreatic ductal blockage Severe intestinal pathology	[51]
CFTR	ΔF508; Exon 10 replacement	Mutant mRNA 30% of WT CFTR levels	No pancreatic abnormalities Longer survival than null models	[57]
CFTR	Exon 3 insertional duplication	<2% of WT CFTR mRNA	Severe intestinal complications	[52]
CFTR	Exon 2 replacement	No detectable WT CFTR mRNA	Severe intestinal complications	[53]
CFTR	ΔF508; Exon 10 insertion (hit and run)	Mutant mRNA at normal WT levels	Nonlethal intestinal abnormalities; no pancreatic or liver abnormalities	[55]
CFTR	ΔF508; Exon 10 replacement	Decreased mutant mRNA in intestine	Impaired sperm transport within the female reproductive tract; no gallbladder pathology	[56]
CFTR	Exon 10 insertion	10% of WT CFTR mRNA	Mild intestinal complications; longer survival	[60, 61]
CFTR	G480C; Exon 10 insertion (hit and run)	Mutant mRNA at normal WT levels	Nonlethal intestinal abnormalities	[58]
CFTR	Exon 1 replacement	No detectable WT CFTR mRNA	Severe intestinal complications	[54]
CFTR	G551D; Exon 11 replacement	Mutant mRNA 53% of WT CFTR levels	Absent or mild (nonlethal) intestinal obstruction	[59]

CFTR: cystic fibrosis transmembrane conductance regulator; WT: wild type.
Adapted from [62–64].