Phenotypes Associated with This Genotype

Genotype
MGI:5428443

• Allelic Composition: Eln^tm1Dyl/Eln⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

cardiovascular system

abnormal aortic valve morphology ( J:184494 )

• 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

abnormal aortic valve annulus morphology ( J:184494 )

• 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

abnormal cardiovascular system physiology ( J:184494 )

• 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