Phenotypes Associated with This Genotype

Genotype
MGI:3619994

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

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

Thinner and abnormal elastic lamellae in the ascending aorta of Eln^tm1Dyl/Eln⁺ mice

cardiovascular system

abnormal blood vessel elastic tissue morphology ( J:51109 )

• elastic lamellae are thinner and increased in number in arteries

abnormal aorta elastic tissue morphology ( J:51109 )

• elastic lamellae in the aorta are about 50% thinner

• 5% and 25% increase in elastic lamellae in the descending and ascending aorta, respectively

decreased aorta elastin content ( J:51109 )

• 50% decrease

abnormal vascular smooth muscle morphology ( J:51109 )

• 35% increase in smooth muscle and elastic lamellae in arteries

abnormal blood vessel physiology ( J:51109 )

• although at physiologic pressures, aortae have normal extensibility, at 125 mmHg and above, aortic extensibility is reduced

muscle

abnormal vascular smooth muscle morphology ( J:51109 )

• 35% increase in smooth muscle and elastic lamellae in arteries

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
supravalvular aortic stenosis		DOID:1929	OMIM:185500	J:51109