Phenotypes Associated with This Genotype

Genotype
MGI:3773702

• Allelic Composition: Cftr^tm1Hgu/Cftr^tm1Hgu
• Genetic Background: involves: 129P2/OlaHsd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

lung inflammation ( J:24119 )

• mutants exposed to S. aureus exhibit increased lymphoid infiltrate and bronchiolitis compared to wild-type

• mutants exposed to B. cepacia exhibit much more severe bronchopneumonia and mixed inflammatory infiltrate than wild-type

increased susceptibility to bacterial infection ( J:24119 )

• mutants are unable to clear Staphylococcus aureus and Burkholderia cepacia from the lungs and develop lung disease after repeated bacterial exposure

respiratory system

respiratory system phenotype ( J:103284 )

N • under normal conditions (without bacterial exposure), no lung abnormalities are detected in homozygotes

lung inflammation ( J:24119 )

• mutants exposed to S. aureus exhibit increased lymphoid infiltrate and bronchiolitis compared to wild-type

• mutants exposed to B. cepacia exhibit much more severe bronchopneumonia and mixed inflammatory infiltrate than wild-type

abnormal lung morphology ( J:24119 )

• mutants exhibit lung disease in response to repeated bacterial exposure

• mutants exhibit increased lymphoid infiltrate, goblet cell hyperplasia, mucus retention in the airways, bronchiolitis compared to wild-type after S. aureus infection

• mutants exhibit severe bronchopneumonia and mucus retention in the major airways, goblet cell hyperplasia and metaplasia, massive mixed inflammatory infiltrate, obliteration of smaller airways, and extensive oedema compared to wild-type after B. cepacia infection

increased respiratory mucosa goblet cell number ( J:24119 )

• mutants exposed to bacteria (S. aureus and B. cepacia) exhibit increased goblet cell hyperplasia compared to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:24119