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Phenotypes Associated with This Genotype
Genotype
MGI:3794044
Allelic
Composition
Mus81tm1Esse/Mus81tm1Esse
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mus81tm1Esse mutation (0 available); any Mus81 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• several mice die suddenly before weaning from cardiovascular problems (J:133703)
• however, unlike homozygous null Efemp2 mice no prenatal lethality is seen (J:133703)
• several mice die suddenly before weaning from cardiovascular problems (J:133703)
• however, unlike homozygous null Efemp2 mice no prenatal lethality is seen (J:133703)

cardiovascular system
• severely enlarged and tortuous aortas in all mice at 14 weeks of age (J:133703)
• severely enlarged and tortuous aortas in all mice at 14 weeks of age (J:133703)
• the ascending aorta show regions of relatively well organized laminae along with regions of dramatically affected laminae (J:133703)
• the ascending aorta show regions of relatively well organized laminae along with regions of dramatically affected laminae (J:133703)
• increased smooth muscle proliferation is seen especially in the tunica adventia of the aorta (J:133703)
• increased smooth muscle proliferation is seen especially in the tunica adventia of the aorta (J:133703)
• the outer elastin layers have a granular appearance and the inner layers show fragmentation and disarray of the fibers (J:133703)
• disruption of elastic laminae is apparent at P1 (J:133703)
• the outer elastin layers have a granular appearance and the inner layers show fragmentation and disarray of the fibers (J:133703)
• disruption of elastic laminae is apparent at P1 (J:133703)
• accumulation of amorphous matrix material between elastic fibers results in aortic wall thickening (J:133703)
• accumulation of amorphous matrix material between elastic fibers results in aortic wall thickening (J:133703)
• tortuous and elongated thoracic aorta (J:133703)
• tortuous and elongated thoracic aorta (J:133703)
• dramatic dilation (2-fold increase in diameter) of the ascending aorta in all newborns (J:133703)
• dramatic dilation (2-fold increase in diameter) of the ascending aorta in all newborns (J:133703)
• dissection of the thoracic aorta was seen in 2 mice that died suddenly (J:133703)
• dissection of the thoracic aorta was seen in 2 mice that died suddenly (J:133703)
• 50% increase in relative left ventricular mass (J:133703)
• 50% increase in relative left ventricular mass (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 (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 (J:133703)
• small increase in the transvalvular blood flow velocity (J:133703)
• small increase in the transvalvular blood flow velocity (J:133703)
• increased stroke volume as a result of aortic insufficiency (J:133703)
• increased stroke volume as a result of aortic insufficiency (J:133703)
• signs of intramural bleeding are present in all mice at 14 weeks of age (J:133703)
• signs of intramural bleeding are present in all mice at 14 weeks of age (J:133703)
• hemopericardium causing cardiac tamponade was seen in 2 mice that died suddenly (J:133703)
• hemopericardium causing cardiac tamponade was seen in 2 mice that died suddenly (J:133703)
• determined by echo-Doppler measurements (J:133703)
• determined by echo-Doppler measurements (J:133703)
• small increase in the systolic pressure gradient across the aortic valve (J:133703)
• small increase in the systolic pressure gradient across the aortic valve (J:133703)
• increased left ventricular end-diastolic pressure and diameter (J:133703)
• increased left ventricular end-diastolic pressure and diameter (J:133703)
• 2- to 3-fold increase in aortic pulse pressure apparently the result of increased aortic stiffness (J:133703)
• however, no change is detected in heart rate or mean aortic pressure (J:133703)
• 2- to 3-fold increase in aortic pulse pressure apparently the result of increased aortic stiffness (J:133703)
• however, no change is detected in heart rate or mean aortic pressure (J:133703)

homeostasis/metabolism
• hemopericardium causing cardiac tamponade was seen in 2 mice that died suddenly (J:133703)
• hemopericardium causing cardiac tamponade was seen in 2 mice that died suddenly (J:133703)


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory