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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mus81tm1Esse
targeted mutation 1, Jeroen Essers
MGI:3785405
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mus81tm1Esse/Mus81tm1Esse involves: 129P2/OlaHsd * C57BL/6 MGI:3794044
hm2
Mus81tm1Esse/Mus81tm1Esse involves: 129P2/OlaHsd * C57BL/6J MGI:5661527
ht3
Mus81tm1Esse/Mus81+ involves: 129P2/OlaHsd * C57BL/6 MGI:3794045
ht4
Mus81tm1Esse/Mus81+ involves: 129P2/OlaHsd * C57BL/6J MGI:5661526


Genotype
MGI:3794044
hm1
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 (15 available)
phenotype observed in females
phenotype observed in males
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




Genotype
MGI:5661527
hm2
Allelic
Composition
Mus81tm1Esse/Mus81tm1Esse
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mus81tm1Esse mutation (0 available); any Mus81 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• an increase in matrix metalloproteinases activation is seen in both the thoracic aorta and abdominal aorta
• 3 month old mice show severe thickening and decellularization of the medial layer of the ascending aortic wall
• 3 month old mice show fragmented and disorganized elastin laminae
• 2-3 fold dilated ascending aortic aneurysms in all mice

immune system
• broncho-alveolar lavage shows higher levels of interleukin-1 beta
• broncho-alveolar lavage indicates more inflammatory cells, particularly granulocytes (Gr-1+) and B-cells (CD19+) in the lungs
• cell suspensions of lungs contain more macrophages (F4/80+) and tend to contain more T-cells (CD3+) and dendritic cells (cD11c+)
• focal infiltrations of inflammatory cells are seen around veins and bronchi of adult lungs, consisting mainly of T-cells and dendritic cells

respiratory system
• broncho-alveolar lavage indicates more inflammatory cells, particularly granulocytes (Gr-1+) and B-cells (CD19+) in the lungs
• cell suspensions of lungs contain more macrophages (F4/80+) and tend to contain more T-cells (CD3+) and dendritic cells (cD11c+)
• focal infiltrations of inflammatory cells are seen around veins and bronchi of adult lungs, consisting mainly of T-cells and dendritic cells
• graded increase in neutrophil elastase activity in the lungs
• newborn lungs show elastin abnormalities and adult lungs show interruptions in the elastin layers
• an increase in matrix metalloproteinases activation is seen in the lungs
• alveolar airspace enlargement in both newborn and adult lungs
• emphysematous changes are seen in lungs of newborns

Mouse Models of Human Disease
OMIM ID Ref(s)
Emphysema, Hereditary Pulmonary 130700 J:222498




Genotype
MGI:3794045
ht3
Allelic
Composition
Mus81tm1Esse/Mus81+
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 (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• subtle changes including reduction in translucence of the aortic wall
• accumulation of excess amorphous matrix material between elastic fibers; however, no defect in fiber integrity is seen
• abnormal ballooning of the proximal right subclavian artery




Genotype
MGI:5661526
ht4
Allelic
Composition
Mus81tm1Esse/Mus81+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mus81tm1Esse mutation (0 available); any Mus81 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• an increase in matrix metalloproteinases activation is seen in both the thoracic aorta and abdominal aorta
• aortas show increased medial thickness
• aortas show signs of elastin breakage and increased deposition of amorphous cell material between the elastin layers

immune system
• mice treated with LPS to mimic bacterial infection exhibit increased and prolonged inflammatory response compared to wild-type mice, showing a greater influx of macrophages, dendritic cells, T-cells, and granulocytes

respiratory system
• adult, but not neonatal, lungs show interruptions in the elastin layers
• graded increase in neutrophil elastase activity in the lungs
• an increase in matrix metalloproteinases activation is seen in the lungs
• however, inflammation in the lungs is not seen
• alveolar airspace enlargement in adult lungs
• mice acquire emphysematous changes with age





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
06/22/2016
MGI 6.04
The Jackson Laboratory