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Phenotypes Associated with This Genotype
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
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phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• aged mutants exhibit extracellular matrix abnormalities such as an increase in cleaved versican in the cusp and annulus regions, increase in total proteoglycan content and decrease in type I and III collagens in the aortic valves
• aortic valves exhibit extracellular matrix structural abnormalities including proteoglycan accumulation in the annulus region and abnormal cartilage-like nodule formation in subareas of the annulus, specifically near the commissures and aortic-mitral continuity
• nodules are characterized by chondrocyte-like halo-cell morphology and are seen at all stages, indicating a developmental abnormality preceding the development of aortic valve disease
• proteoglycan accumulation is seen only in aged mutants
• MMP expression in the annulus indicates early maladaptive extracellular matrix (ECM) remodeling in aortic valve malformation without aortic valve disease and worsening pathologic ECM remodeling with aortic valve disease
• aortic valves show a progressive decrease in regional tissue tensile stiffness

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
aortic valve disease DOID:62 J:184494

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
MGI 6.14
The Jackson Laboratory