Phenotypes Associated with This Genotype

Genotype
MGI:5827840

• Allelic Composition: Bmpr2^tm1Mmue/Bmpr2⁺
• Genetic Background: B6.129S1-Bmpr2^tm1Mmue

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

cardiovascular system

abnormal pulmonary artery morphology ( J:224752 )

• 6 month old mice exhibit enhanced muscularization of peripheral pulmonary arteries in the lung

increased right ventricle systolic pressure ( J:224752 )

• mice exhibit normal right ventricular systolic pressure at 3 months of age but develop elevated right ventricular systolic pressure by 6 months of age

• however, mice do not exhibit right ventricular hypertrophy and show no differences in left ventricular end diastolic pressure or cardiac output at 6 months

pulmonary hypertension ( J:224752 )

• mice exhibit pulmonary arterial hypertension by 6 months of age

• treatment of 6 month old mice with daily intraperitoneal injection of BMP9 for 4 weeks reverses all indices of pulmonary arterial hypertension, returning right ventricular systolic pressure to normal and reversing the enhanced pulmonary arterial muscularization

increased vascular permeability ( J:224752 )

• monolayers of pulmonary endothelial cells in vitro show increased permeability at baseline and following LPS stimulation

• mice injected with LPS develop increased pulmonary vascular leak compared to wild-type mice

• treatment with BMP9 prevents vascular leak to a similar degree as in wild-type mice

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:224752