Phenotypes Associated with This Genotype

Genotype
MGI:3794044

• Allelic Composition: Mus81^tm1Esse/Mus81^tm1Esse
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:133703 )

• several mice die suddenly before weaning from cardiovascular problems

• however, unlike homozygous null Efemp2 mice no prenatal lethality is seen

cardiovascular system

abnormal aorta morphology ( J:133703 )

• severely enlarged and tortuous aortas in all mice at 14 weeks of age

abnormal aorta wall morphology ( J:133703 )

• the ascending aorta show regions of relatively well organized laminae along with regions of dramatically affected laminae

abnormal aorta tunica adventitia morphology ( J:133703 )

• increased smooth muscle proliferation is seen especially in the tunica adventia of the aorta

abnormal aorta elastic tissue morphology ( J:133703 )

• the outer elastin layers have a granular appearance and the inner layers show fragmentation and disarray of the fibers

• disruption of elastic laminae is apparent at P1

increased aorta wall thickness ( J:133703 )

• accumulation of amorphous matrix material between elastic fibers results in aortic wall thickening

abnormal thoracic aorta morphology ( J:133703 )

• tortuous and elongated thoracic aorta

dilated ascending aorta ( J:133703 )

• dramatic dilation (2-fold increase in diameter) of the ascending aorta in all newborns

aortic dissection ( J:133703 )

• dissection of the thoracic aorta was seen in 2 mice that died suddenly

aortic aneurysm ( J:133703 )

heart left ventricle hypertrophy ( J:133703 )

• 50% increase in relative left ventricular mass

abnormal aortic valve morphology ( J:133703 )

aortic valve stenosis ( J:133703 )

• mild stenosis indicated by a small increase in the systolic pressure gradient across the aortic valve and in the transvalvular blood flow velocity

abnormal cardiovascular system physiology ( J:133703 )

abnormal blood flow velocity ( J:133703 )

• small increase in the transvalvular blood flow velocity

increased cardiac stroke volume ( J:133703 )

• increased stroke volume as a result of aortic insufficiency

internal hemorrhage ( J:133703 )

• signs of intramural bleeding are present in all mice at 14 weeks of age

hemopericardium ( J:133703 )

• hemopericardium causing cardiac tamponade was seen in 2 mice that died suddenly

aortic valve regurgitation ( J:133703 )

• determined by echo-Doppler measurements

abnormal heart ventricle pressure ( J:133703 )

• small increase in the systolic pressure gradient across the aortic valve

increased left ventricle diastolic pressure ( J:133703 )

• increased left ventricular end-diastolic pressure and diameter

increased pulse pressure ( J:133703 )

• 2- to 3-fold increase in aortic pulse pressure apparently the result of increased aortic stiffness

• however, no change is detected in heart rate or mean aortic pressure

homeostasis/metabolism

hemopericardium ( J:133703 )

• hemopericardium causing cardiac tamponade was seen in 2 mice that died suddenly

muscle

heart left ventricle hypertrophy ( J:133703 )

• 50% increase in relative left ventricular mass

growth/size/body

heart left ventricle hypertrophy ( J:133703 )

• 50% increase in relative left ventricular mass

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
arterial tortuosity syndrome		DOID:0050645	OMIM:208050	J:133703
Marfan syndrome		DOID:14323	OMIM:154700	J:133703