Phenotypes Associated with This Genotype

Genotype
MGI:5307019

• Allelic Composition: Col3a1^m1Lsmi/Col3a1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

premature death ( J:180729 , J:180733 )

• median life expectancy is 6 weeks due to aortic dissection (J:180729)

• more male mice are affected than female mice (J:180733)

• some mice exhibit spontaneous aortic dissection resulting in death between 4 and 10 weeks of age (J:180733)

cardiovascular system

abnormal aorta elastic tissue morphology ( J:180733 )

• the elastic lamellar exhibit reduced electron density with variable width and disrupted architecture compared with wild-type mice

abnormal aorta smooth muscle morphology ( J:180733 )

• tearing

aortic dissection ( J:180729 , J:180733 )

• most mice that develop spontaneous aortic dissection die between 4 and 10 weeks of age (J:180733)

increased systemic arterial systolic blood pressure ( J:180733 )

• at 4, 8, and 12 weeks of age

• however, systolic blood pressure at 14 weeks is normal

increased vasoconstriction ( J:180733 )

• in response to 5-hydroxytryptamine

• however, denuded aorta exhibit normal constriction in response to 5-hydroxytryptamine

homeostasis/metabolism

abnormal response/metabolism to endogenous compounds ( J:180733 )

• intact aortas exhibit increased contractile response to 5-hydroxytryptamine compared with wild-type aorta

• however, aortic relaxation in response to acetylcholine and sodium nitroprusside is normal

muscle

abnormal aorta smooth muscle morphology ( J:180733 )

• tearing

increased vasoconstriction ( J:180733 )

• in response to 5-hydroxytryptamine

• however, denuded aorta exhibit normal constriction in response to 5-hydroxytryptamine

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
vascular type Ehlers-Danlos syndrome		DOID:14756	OMIM:130050	J:180733