Phenotypes Associated with This Genotype

Genotype
MGI:2177531

• Allelic Composition: Cftr^tm1Hgu/Cftr^tm1Hgu
• Genetic Background: involves: 129P2/OlaHsd * MF1

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:20037 )

• low incidence of lethality due to intestinal blockage; 5% die within 1 week of birth and 2% die around weaning, with 93% surviving to adulthood

digestive/alimentary system

abnormal colon morphology ( J:14614 )

• mild colon dilatation with abnormal mucus accumulation

• distension of epithelial cells, most prominent in the crypts

meconium ileus ( J:20037 )

• approximately 5% incidence of fatal meconium ileus

decreased intestinal epithelial chloride transmembrane transport ( J:14614 )

• chloride ion transport is altered as indicated by reduced rectal and colonic/caecal potential differences

respiratory system

atelectasis ( J:14614 )

• one mutant at P30 showed mild focal pulmonary atelectasis, with mucus obstruction of a small bronchus

decreased respiratory epithelial chloride transmembrane transport ( J:14614 )

• chloride ion transport in the nose is defective as indicated by an increased nasal potential difference, but no difference is seen throughout the lower airways below the larynx

• perfusion of the trachea with a low-chloride solution shows a reduction in resultant hyperpolarization

reproductive system

abnormal vas deferens morphology ( J:14614 )

♂ • one male exhibited increased mucin in the vas deferens

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:14614