Mouse Genome Informatics
hm
    Mus81tm1Esse/Mus81tm1Esse
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• several mice die suddenly before weaning from cardiovascular problems
• however, unlike homozygous null Efemp2 mice no prenatal lethality is seen

cardiovascular system
• severely enlarged and tortuous aortas in all mice at 14 weeks of age
• the ascending aorta show regions of relatively well organized laminae along with regions of dramatically affected laminae
• increased smooth muscle proliferation is seen especially in the tunica adventia of the aorta
• 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
• accumulation of amorphous matrix material between elastic fibers results in aortic wall thickening
• tortuous and elongated thoracic aorta
• dramatic dilation (2-fold increase in diameter) of the ascending aorta in all newborns
• dissection of the thoracic aorta was seen in 2 mice that died suddenly
• 50% increase in relative left ventricular mass
• mild stenosis indicated by a small increase in the systolic pressure gradient across the aortic valve and in the transvalvular blood flow velocity
• small increase in the transvalvular blood flow velocity
• increased stroke volume as a result of aortic insufficiency
• signs of intramural bleeding are present in all mice at 14 weeks of age
• hemopericardium causing cardiac tamponade was seen in 2 mice that died suddenly
• determined by echo-Doppler measurements
• small increase in the systolic pressure gradient across the aortic valve
• increased left ventricular end-diastolic pressure and diameter
• 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 causing cardiac tamponade was seen in 2 mice that died suddenly

Mouse Models of Human Disease
OMIM IDRef(s)
Arterial Tortuosity Syndrome; ATS 208050 J:133703
Marfan Syndrome; MFS 154700 J:133703