Phenotypes Associated with This Genotype

Genotype
MGI:5447166

• Allelic Composition: Jag1^tm1Frad/Jag1^tm1Frad; Tg(Cdh5-cre)7Mlia/0
• Genetic Background: B6.Cg-Jag1^tm1Frad Tg(Cdh5-cre)7Mlia

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

growth/size/body

heart right ventricle hypertrophy ( J:189213 )

mortality/aging

mortality/aging ( J:166890 )

N • contrary to previous reports, viable mice are produced

cardiovascular system

abnormal pulmonary trunk morphology ( J:189213 )

• abnormal positioning of the aorta and pulmonary trunk

abnormal aorta morphology ( J:189213 )

• abnormal positioning of the aorta and pulmonary trunk

abnormal cardiac outflow tract development ( J:189213 )

abnormal heart morphology ( J:189213 )

abnormal coronary vessel morphology ( J:189213 )

• fragile and hemorrhaging in embryos and neonates

• thin and disorganized

overriding aortic valve ( J:189213 )

increased heart right atrium size ( J:189213 )

• hypertrophy

ventricular septal defect ( J:189213 )

• incomplete at E14.5

abnormal heart valve morphology ( J:189213 )

• large and hyperplastic (myxomatous)

• neonates exhibit bulges near the valve annulus

• cartilage nodules and calcification in the annulus of adults

calcified aortic valve ( J:189213 )

pulmonary valve stenosis ( J:189213 )

thick heart valve cusps ( J:189213 )

• thick at P10 with lower nuclear density indicating changes in the extracellular matrix rather than increase in cell density

• increased outflow tract valve leaflet width in adults

increased heart right ventricle size ( J:189213 )

• increased area

heart right ventricle hypertrophy ( J:189213 )

increased heart right ventricle wall thickness ( J:189213 )

dilated heart ( J:189213 )

• near the apex

pulmonary valve regurgitation ( J:189213 )

• severe

increased systemic arterial systolic blood pressure ( J:189213 )

• with severe regurgitation at the pulmonic valve

muscle

heart right ventricle hypertrophy ( J:189213 )

liver/biliary system

liver/biliary system phenotype ( J:166890 )

N • mice exhibit normal bile duct formation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alagille syndrome		DOID:9245	OMIM:118450 OMIM:610205	J:189213