Phenotypes Associated with This Genotype

Genotype
MGI:4947947

• Allelic Composition: Efemp2^tm1.2Hiya/Efemp2^tm1.2Hiya
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

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

mortality/aging

perinatal lethality, complete penetrance ( J:170883 )

• mice die in or after parturition due to ascending aorta aneurysm rupture

cardiovascular system

abnormal aorta tunica media morphology ( J:170883 )

• degenerative

abnormal aorta elastic fiber morphology ( J:170883 )

• aortas exhibit degeneration and decrease of the elastic fiber compared to in wild-type mice

ascending aorta aneurysm ( J:170883 )

• mice die in or after parturition due to ascending aorta aneurysm rupture

abnormal vascular smooth muscle morphology ( J:170883 )

• vascular smooth muscle cell are immature with round nuclei unlike in wild-type mice

• vascular smooth muscle cells in the aorta exhibit defective terminal differentiation compared to in wild-type mice

vascular smooth muscle hyperplasia ( J:170883 )

• E17.5 and E18.5

increased vascular endothelial cell apoptosis ( J:170883 )

increased vascular endothelial cell proliferation ( J:170883 )

abnormal vascular smooth muscle physiology ( J:170883 )

• mice exhibit increased apoptosis of vascular smooth muscle cells compared with wild-type mice

increased vascular smooth muscle cell proliferation ( J:170883 )

• mice exhibit increased proliferation of vascular smooth muscle cells compared with wild-type mice

muscle

abnormal vascular smooth muscle morphology ( J:170883 )

• vascular smooth muscle cell are immature with round nuclei unlike in wild-type mice

• vascular smooth muscle cells in the aorta exhibit defective terminal differentiation compared to in wild-type mice

vascular smooth muscle hyperplasia ( J:170883 )

• E17.5 and E18.5

abnormal vascular smooth muscle physiology ( J:170883 )

• mice exhibit increased apoptosis of vascular smooth muscle cells compared with wild-type mice

increased vascular smooth muscle cell proliferation ( J:170883 )

• mice exhibit increased proliferation of vascular smooth muscle cells compared with wild-type mice

cellular

increased vascular endothelial cell apoptosis ( J:170883 )

increased vascular endothelial cell proliferation ( J:170883 )

increased vascular smooth muscle cell proliferation ( J:170883 )

• mice exhibit increased proliferation of vascular smooth muscle cells compared with wild-type mice