Phenotypes Associated with This Genotype

Genotype
MGI:2673834

• Allelic Composition: Hey2^tm1Uts/Hey2^tm1Uts
• Genetic Background: either: (involves: 129X1/SvJ) or (involves: C57BL/6)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:79025 )

• most progeny died within 10 days of birth

• homozygous mice represented 3% of the surviving progeny at weaning

cardiovascular system

pulmonary artery stenosis ( J:79025 )

• at P9, the pulmonary artery shows narrowing in mutant mice

abnormal heart development ( J:79025 )

• defects, including secondary ventricular hypertrophy, ventricular septal defect, overriding aorta, and pulmonic stenosis, are similar to human Tetralogy of Fallot

overriding aortic valve ( J:79025 )

tricuspid valve atresia ( J:79025 )

• tricuspid atresia

atrial septal defect ( J:79025 )

perimembraneous ventricular septal defect ( J:79025 )

• observed in all mice examined during the prenatal and early postnatal period

• the abnormal shunting of blood between the pulmonary and systemic circulations was confirmed using a dye

muscular ventricular septal defect ( J:79025 )

• some animals showed a defect of the muscular septum

abnormal heart shape ( J:79025 )

• abnormal pear-shape

enlarged heart ( J:79025 )

heart left ventricle hypertrophy ( J:79025 )

• exhibited by mice that survived to the second postnatal week

heart right ventricle hypertrophy ( J:79025 )

• exhibited by mice that survived to the second postnatal week

abnormal pulmonary valve cusp morphology ( J:79025 )

• at E15.5, the leaflets of the left atrium pulmonic valve are fused

pulmonary valve stenosis ( J:79025 )

• at E15.5, the lumen of the pulmonary valve is narrow

muscle

heart left ventricle hypertrophy ( J:79025 )

• exhibited by mice that survived to the second postnatal week

heart right ventricle hypertrophy ( J:79025 )

• exhibited by mice that survived to the second postnatal week

growth/size/body

enlarged heart ( J:79025 )

heart left ventricle hypertrophy ( J:79025 )

• exhibited by mice that survived to the second postnatal week

heart right ventricle hypertrophy ( J:79025 )

• exhibited by mice that survived to the second postnatal week

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tetralogy of Fallot		DOID:6419	OMIM:187500	J:79025