Phenotypes Associated with This Genotype

Genotype
MGI:5661527

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

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

cardiovascular system

abnormal aorta morphology ( J:222498 )

• an increase in matrix metalloproteinases activation is seen in both the thoracic aorta and abdominal aorta

abnormal aorta tunica media morphology ( J:222498 )

• 3 month old mice show severe thickening and decellularization of the medial layer of the ascending aortic wall

abnormal aorta elastic tissue morphology ( J:222498 )

• 3 month old mice show fragmented and disorganized elastin laminae

ascending aorta aneurysm ( J:222498 )

• 2-3 fold dilated ascending aortic aneurysms in all mice

immune system

increased interleukin-1 beta secretion ( J:222498 )

• broncho-alveolar lavage shows higher levels of interleukin-1 beta

lung inflammation ( J:222498 )

• 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

lung inflammation ( J:222498 )

• 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

abnormal lung morphology ( J:222498 )

• 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

overexpanded pulmonary alveolus ( J:222498 )

• alveolar airspace enlargement in both newborn and adult lungs

emphysema ( J:222498 )

• emphysematous changes are seen in lungs of newborns

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pulmonary emphysema		DOID:9675	OMIM:130700	J:222498