Phenotypes Associated with This Genotype

Genotype
MGI:2669727

• Allelic Composition: Hey2^tm1Mtc/Hey2^tm1Mtc
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

Hey2^tm1Mtc/Hey2^tm1Mtc mice have ventricular septal defects

mortality/aging

postnatal lethality, incomplete penetrance ( J:80681 )

• some mice surviving to adulthood

• Background Sensitivity: incomplete penetrance, less severe than on the 129X1/SvJ background

cardiovascular system

visceral vascular congestion ( J:80681 )

• most pups show severe pulmonary and liver congestion, suggestive of heart failure

liver vascular congestion ( J:80681 )

pulmonary vascular congestion ( J:80681 )

absent interventricular septum membranous part ( J:80681 )

• absence of membranous septum was observed in 4 of 6 perinatal mice

perimembraneous ventricular septal defect ( J:80681 )

• absence of membranous septum was observed in 4 of 6 perinatal mice

• however, normal semilunar and atrioventricular valves, aorta, pulmonary artery, and coronary artery morphology were seen

cardiac interstitial fibrosis ( J:80681 )

• seen in mutants that survive to adulthood

decreased cardiac muscle contractility ( J:80681 )

• systolic contractile dysfunction exhibited by surviving mice around 12 weeks of age

cardiomyopathy ( J:80681 )

• observed in 8 of 11 mixed background mice surviving to 40 weeks

growth/size/body

decreased body size ( J:80681 )

postnatal growth retardation ( J:80681 )

muscle

decreased cardiac muscle contractility ( J:80681 )

• systolic contractile dysfunction exhibited by surviving mice around 12 weeks of age

cardiomyopathy ( J:80681 )

• observed in 8 of 11 mixed background mice surviving to 40 weeks

liver/biliary system

liver vascular congestion ( J:80681 )

respiratory system

pulmonary vascular congestion ( J:80681 )

cellular

cardiac interstitial fibrosis ( J:80681 )

• seen in mutants that survive to adulthood