Phenotypes Associated with This Genotype

Genotype
MGI:7263380

• Allelic Composition: Cftr^tm1.1Sdw/Cftr^tm1.1Sdw
• Genetic Background: involves: C57BL/6 * C57BL/6J

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

mortality/aging

premature death ( J:323560 )

• mice exhibit a general failure to thrive and survival rate drops to 38% by day 50

postnatal lethality, incomplete penetrance ( J:323560 )

• survival rate of 83% at time of weaning

integument

disheveled coat ( J:323560 )

• mice have a scruffier appearance

digestive/alimentary system

abnormal intestinal goblet cell morphology ( J:323560 )

• mice appear to have more goblet cells but is not quantified

dilated crypt of Lieberkuhn ( J:323560 )

• crypts of Lieberkuhn are dilated

intestinal obstruction ( J:323560 )

• more than half of mice have signs of intestinal obstruction or malnutrition by 50 days of age

• intestinal blockages appear to be composed of an inspissated mixture of food material and possibly mucus

endocrine/exocrine glands

dilated crypt of Lieberkuhn ( J:323560 )

• crypts of Lieberkuhn are dilated

homeostasis/metabolism

decreased physiological sensitivity to xenobiotic ( J:323560 )

• primary airway epithelial cells cultured at the air liquid interface show a very minimal response to forskolin, indicating that no CFTR channels are opening in response to the drug

cellular

abnormal intestinal goblet cell morphology ( J:323560 )

• mice appear to have more goblet cells but is not quantified

respiratory system

respiratory system phenotype ( J:323560 )

N • no obvious lung fibrosis or mucus accumulation is seen in the lungs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:323560