Phenotypes Associated with This Genotype

Genotype
MGI:5430750

• Allelic Composition: Bmpr2^tm1.1Enl/Bmpr2^tm1.1Enl; Tg(Acvrl1-cre)L1Spo/0
• Genetic Background: involves: 129S4/SvJae * FVB

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

cardiovascular system

abnormal pulmonary artery morphology ( J:158116 )

• mutants with pulmonary hypertension exhibit an increased number of alpha-smooth muscle actin-positive (alphaSMA+) distal pulmonary arteries

• mutants with pulmonary hypertension exhibit an increase in medial wall thickness of alphaSMA+ small pulmonary arteries

artery occlusion ( J:158116 )

• mutants exhibit a thickening of alphaSMA+ cell layers in small arteries of the pulmonary hypertension lungs and some arteries appear occluded, resembling the concentric vascular lesions in human pulmonary arterial hypertension

abnormal lung vasculature morphology ( J:158116 )

• 50% of mutant lungs show focal leukocyte infiltrations surrounding pulmonary vessels that are not seen in controls; infiltration is more frequent in mice with pulmonary hypertension than in mutants with lower right ventricular systolic pressure

• most of the infiltrating cells are CD68+ monocyte/macrophages

heart right ventricle hypertrophy ( J:158116 )

• ratio of right ventricle to left ventricle plus septum is higher in mutants with pulmonary hypertension than in controls, indicating right ventricle hypertrophy

increased pulmonary artery pressure ( J:158116 )

• mutants exhibit a higher right ventricular systolic pressure than controls

pulmonary hypertension ( J:158116 )

• some mutants develop pulmonary hypertension (ventricular systolic pressure > 30 mm Hg)

increased vascular smooth muscle cell proliferation ( J:158116 )

• smooth muscle cells in distal pulmonary arteries exhibit increased proliferation index

growth/size/body

heart right ventricle hypertrophy ( J:158116 )

• ratio of right ventricle to left ventricle plus septum is higher in mutants with pulmonary hypertension than in controls, indicating right ventricle hypertrophy

cellular

increased vascular smooth muscle cell proliferation ( J:158116 )

• smooth muscle cells in distal pulmonary arteries exhibit increased proliferation index

increased lung endothelial cell proliferation ( J:158116 )

• endothelial cells in distal pulmonary arteries exhibit increased proliferation index

homeostasis/metabolism

abnormal lung thrombosis ( J:158116 )

• 53% of pulmonary hypertension lungs exhibit in situ thrombosis, with lumens of some affected vessels partially or completely occluded by fibrin(ogen)+ thrombi

muscle

heart right ventricle hypertrophy ( J:158116 )

• ratio of right ventricle to left ventricle plus septum is higher in mutants with pulmonary hypertension than in controls, indicating right ventricle hypertrophy

increased vascular smooth muscle cell proliferation ( J:158116 )

• smooth muscle cells in distal pulmonary arteries exhibit increased proliferation index

respiratory system

abnormal lung vasculature morphology ( J:158116 )

• 50% of mutant lungs show focal leukocyte infiltrations surrounding pulmonary vessels that are not seen in controls; infiltration is more frequent in mice with pulmonary hypertension than in mutants with lower right ventricular systolic pressure

• most of the infiltrating cells are CD68+ monocyte/macrophages

increased lung endothelial cell proliferation ( J:158116 )

• endothelial cells in distal pulmonary arteries exhibit increased proliferation index

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary pulmonary hypertension		DOID:14557	OMIM:178600 OMIM:265400 OMIM:615342 OMIM:615343 OMIM:615344	J:158116