Phenotypes associated with this allele

• Allele Symbol: Cftr^tm2Hgu
• Allele Name: targeted mutation 2, MRC Human Genetics Unit
• Allele ID: MGI:2177539
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cftr^tm2Hgu/Cftr^tm2Hgu	involves: 129P2/OlaHsd * C57BL/6	MGI:2177545

Genotype
MGI:2177545

hm1

• Allelic Composition: Cftr^tm2Hgu/Cftr^tm2Hgu
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

digestive/alimentary system

abnormal intestine goblet cell morphology ( J:74740 )

• focal hypertrophy of goblet cells, however do not observe distension of crypts in the small intestine or intestinal blockage

abnormal digestive system physiology ( J:74740 )

• defect in chloride ion transport in the jejunum but not the caecum

respiratory system

abnormal respiratory system physiology ( J:74740 )

• defect in chloride ion transport in the nose, with baseline nasal biolelectrics significantly raised and a reduced response to a low chloride gradient

craniofacial

craniofacial phenotype ( J:74740 )

N • teeth are normal in color

reproductive system

reproductive system phenotype ( J:74740 )

N • males and females are fertile

cellular

abnormal intestine goblet cell morphology ( J:74740 )

• focal hypertrophy of goblet cells, however do not observe distension of crypts in the small intestine or intestinal blockage

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:74740