Phenotypes Associated with This Genotype

Genotype
MGI:3620001

• Allelic Composition: Eln^tm1Dyl/Eln⁺
• Genetic Background: B6.129-Eln^tm1Dyl

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

cardiovascular system

abnormal artery morphology ( J:86535 )

• increase in arterial stiffness

decreased aorta elastin content ( J:86535 )

• elastin levels are about 35% lower in the ascending and abdominal aorta

decreased aorta wall thickness ( J:86535 )

• 20-25% decrease in wall thickness of the aorta at physiological mean arterial pressure

artery stenosis ( J:86535 )

• inner and outer diameters of arteries are smaller at any given intravascular pressure

cardiac hypertrophy ( J:86535 )

• develop only moderate cardiac hypertrophy (15% increase in heart weight), however, do not show signs of degenerative vascular disease

abnormal cardiovascular system physiology ( J:86535 )

increased cardiac output ( J:86535 )

increased cardiac stroke volume ( J:86535 )

• increase in cardiac output volume

hypertension ( J:86535 )

• hypertensive from birth

increased mean systemic arterial blood pressure ( J:86535 )

• mean arterial pressure is 25-30 mmHg higher than in wild-type

increased systemic arterial diastolic blood pressure ( J:86535 )

increased systemic arterial systolic blood pressure ( J:86535 )

abnormal blood vessel physiology ( J:86535 )

• at their higher physiological pressure, vessels are stiffer and have a higher circumferential wall stress, circumferential wall strain, and incremental elasticity modulus than wild-type vessels

• at lower pressures, however, vessels are more elastic and show greater dilation than wild-type arteries

• undergo normal vasoconstriction in response to phenylephrine and normal vasodilation in response to acetylcholine

homeostasis/metabolism

increased circulating renin level ( J:86535 )

• more than 2-fold increase in plasma renin levels, however aldosterone levels were similar to wild-type

growth/size/body

cardiac hypertrophy ( J:86535 )

• develop only moderate cardiac hypertrophy (15% increase in heart weight), however, do not show signs of degenerative vascular disease

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
essential hypertension		DOID:10825	OMIM:145500 OMIM:603918 OMIM:604329 OMIM:607329 OMIM:608742 OMIM:610261 OMIM:610262 OMIM:610948 OMIM:611014	J:86535
supravalvular aortic stenosis		DOID:1929	OMIM:185500	J:86535