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Phenotypes Associated with This Genotype
Genotype
MGI:5905421
Allelic
Composition
Egfrwa2/Egfrwa2
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egfrwa2 mutation (3 available); any Egfr mutation (86 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• aortic enlargement at 1.5 months of age
• aortic diameters at the level of the sinuses of Valsalva and at the level of the proximal ascending aorta are increased at all ages
• myocardial transverse tubule organization is disrupted at 12 months of age but not at 1.5 and 3 months
• left ventricle mass, indexed to body mass, is elevated at 1.5, 6, and 12 months of age
• pioglitazone treatment has no effect on left ventricle mass
• aortic valve collagen levels are normal at 1.5 months of age but are increased at 6 and 12 months of age
• lipid levels are increased in aortic valves at 6 and 12 months of age but not at 1.5 months
• levels of proteoglycan in the aortic valve are elevated at 1.5, 6, and 12 months of age
• alpha-smooth muscle actin levels are elevated in aortic valves at 6 and 12 months of age but not at 1.5 months, indicating transdifferentiation of valve interstitial cells from a quiescent state to a profibrotic state
• intact versican is increased while cleaved versican is reduced in aortic valves at 6 months of age indicating increased levels of total proteoglycan
• however, levels of biglycan are normal
• pioglitazone treatment has no effect on collagen levels, on aortic valve lipid levels, on aortic valve alpha-smooth muscle actin levels, or on intact or cleaved versican levels
• 3 of 55 mice show an aortic cup separation of <0.66 mm, indicating a low level of aortic stenosis
• aortic cusp separation is normal in most mice and aortic cusp movement is symmetrical at all ages
• aortic valve calcification is increased at 6 and 12 months of age but not at 1.5 months
• marker analysis indicates osteogenic transformation in the aortic valve at 6 and 12 months of age but not at 1.5 months
• pioglitazone treatment reduces valve calcification
• left ventricle chamber enlargement at 1.5, 6, and 12 months of age
• left ventricle hypertrophy at 1.5 and 3 months of age, at a time when left ventricle systolic function is normal
• fibrosis is evident in the myocardium at 12 months of age
• left ventricle stroke volume is increased at 1.5, 6, and 12 months of age
• however, stroke volume is not increased in the 30% of mice that do not have aortic regurgitation at 1.5 months of age
• pioglitazone treatment has no effect on left ventricle stroke volume
• left ventricle ejection fraction is decreased by 12 months of age but not at 1.5 and 6 months of age
• by 12 months of age, a trend toward greater left ventricular dilation and lower left ventricle ejection fraction in females than in males
• right ventricle ejection fraction is decreased at 6 months of age
• an increase in apoptosis in the aortic valve is seen at 6 and 12 months of age, but not at 1.5 months
• elevation of transvalvular gradients in aortic valves
• treatment with pioglitazone prevents increases in apoptosis
• prevalence of moderate or severe aortic regurgitation is 70%, 81%, and 73% at 1.5, 6, and 12 months of age, respectively
• all mice with aortic stenosis also have severe aortic regurgitation with diastolic prolapse of more than or equal to 1 valve cusps into the left ventricular outflow tract
• however, mitral regurgitation is absent
• pioglitazone treatment has no effect on prevalence of aortic regurgitation
• increase in transvalvular gradients associated with increased aortic pulse pressure

muscle
• myocardial transverse tubule organization is disrupted at 12 months of age but not at 1.5 and 3 months
• left ventricle hypertrophy at 1.5 and 3 months of age, at a time when left ventricle systolic function is normal
• left ventricle ejection fraction is decreased by 12 months of age but not at 1.5 and 6 months of age
• by 12 months of age, a trend toward greater left ventricular dilation and lower left ventricle ejection fraction in females than in males
• right ventricle ejection fraction is decreased at 6 months of age

growth/size/body
• left ventricle hypertrophy at 1.5 and 3 months of age, at a time when left ventricle systolic function is normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
aortic valve disease DOID:62 J:241813


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
07/02/2024
MGI 6.13
The Jackson Laboratory