Mouse Genome Informatics
cn
    Bmpr2tm1.1Enl/Bmpr2tm1.1Enl
Tg(Acvrl1-cre)L1Spo/0

involves: 129S4/SvJae * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
cardiovascular system
• 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
• 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
• 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
• ratio of right ventricle to left ventricle plus septum is higher in mutants with pulmonary hypertension than in controls, indicating right ventricle hypertrophy
• smooth muscle cells in distal pulmonary arteries exhibit increased proliferation index
• mutants exhibit a higher right ventricular systolic pressure than controls
• some mutants develop pulmonary hypertension (ventricular systolic pressure > 30 mm Hg)

cellular
• endothelial cells in distal pulmonary arteries exhibit increased proliferation index

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

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

respiratory system
• 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
• endothelial cells in distal pulmonary arteries exhibit increased proliferation index

Mouse Models of Human Disease
OMIM IDRef(s)
Pulmonary Hypertension, Primary, 1; PPH1 178600 J:158116