Phenotypes Associated with This Genotype

Genotype
MGI:5775399

hm1

• Allelic Composition: Erg^tm1.1Path/Erg^tm1.1Path
• Genetic Background: Not Specified

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

mortality/aging

lethality, complete penetrance ( J:227456 )

• lethality between E16.5 and 3 months with 100% penetrance

cardiovascular system

abnormal vein morphology ( J:227456 )

• venous angiograms are abnormal with small-vessel pruning and absence of peripheral vascular blush

• however, mice show normal coronary artery/vein configuration and luminal diameter and coronary arteries and veins appear normal

abnormal venule morphology ( J:227456 )

• venule intimal thickening is correlated with cellular proliferation

venoocclusion ( J:227456 )

• mice develop lethal pulmonary veno-occlusive disease, showing occlusion and luminal narrowing of postcapillary pulmonary venules

• pulmonary venule occlusion is widespread

heart right ventricle hypertrophy ( J:227456 )

• ratio of right ventricle weight to left ventricle and septum is increased in 4 week old mice

lung hemorrhage ( J:227456 )

• variable pulmonary capillary hemorrhage

increased right ventricle systolic pressure ( J:227456 )

• postnatally, mice develop elevated right ventricular systolic pressures

• however, mice exhibit normal left ventricular systolic function, thickness, inner diameter, and fractional shortening

pulmonary hypertension ( J:227456 )

• pulmonary hypertension from venous obstruction in mice that survive past 4 weeks

increased vascular endothelial cell proliferation ( J:227456 )

• pulmonary venous endothelial cells (PVECs) show increased growth rates at perconfluence and increased proliferation

• however, pulmonary arterial endothelial cells (PAEC) growth rate and proliferation are normal

hematopoietic system

pancytopenia ( J:227456 )

homeostasis/metabolism

pulmonary edema ( J:227456 )

• mice challenged with the pulmonary vasodilator epoprostenol develop life-threatening pulmonary edema

respiratory system

lung hemorrhage ( J:227456 )

• variable pulmonary capillary hemorrhage

pulmonary edema ( J:227456 )

• mice challenged with the pulmonary vasodilator epoprostenol develop life-threatening pulmonary edema

cellular

increased vascular endothelial cell proliferation ( J:227456 )

• pulmonary venous endothelial cells (PVECs) show increased growth rates at perconfluence and increased proliferation

• however, pulmonary arterial endothelial cells (PAEC) growth rate and proliferation are normal

muscle

heart right ventricle hypertrophy ( J:227456 )

• ratio of right ventricle weight to left ventricle and septum is increased in 4 week old mice

growth/size/body

heart right ventricle hypertrophy ( J:227456 )

• ratio of right ventricle weight to left ventricle and septum is increased in 4 week old mice