Phenotypes Associated with This Genotype

Genotype
MGI:3028850

• Allelic Composition: Emilin1^tm1Gmb/Emilin1^tm1Gmb
• Genetic Background: either: (involves: 129/Sv * C57BL/6J) or (involves: 129/Sv * CD-1)

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

cardiovascular system

abnormal aorta wall morphology ( J:87574 )

• endothelial cells and smooth muscle cells with enlarged endoplasmic reticulum, swollen or dense mitochondria, and on rare occasions with condensed chromatin in the nuclei

abnormal aorta elastic tissue morphology ( J:87574 )

• delamination and increased interruption of elastic lamellae seen in cross section

• lamellae are dishomogeneous and have a frayed texture

• small elastin deposits seen between lamellae in oblique and tangential sections

• regions of fragmentation of elastic lamellae

• elastic fibers: amorphous core is irregular giving the fiber a porous appearance

• increased space between endothelial cell membrane and internal elastic lamella

• elastin extensions from lamellae to plasma membrane are disarranged

integument

abnormal dermal layer morphology ( J:87574 )

• elastic fibers: amorphous core is irregular giving the fiber a porous appearance