Phenotypes Associated with This Genotype

Genotype
MGI:3652414

• Allelic Composition: Fbn1^tm3Rmz/Fbn1^tm3Rmz
• Genetic Background: Not Specified

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

Fbn1^tm3Rmz/Fbn1^tm3Rmz mice exhibit aortic aneurysm and lesions, malformed ribs, and thinner intercostal muscles

mortality/aging

postnatal lethality, complete penetrance ( J:110586 , J:187484 )

• all die within 2 weeks of birth (J:110586)

cardiovascular system

abnormal aorta elastic tissue morphology ( J:110586 )

• abnormalities in the lamellar unit are seen both inside and outside of the aortic aneurysm

• the elastic lamellae appear thin and disorganized beginning between P10 and P14

abnormal aorta elastic fiber morphology ( J:110586 )

• fibers have an abnormal wavy, thin appearance and are fragmented and discontinuous within the aneurysm

ascending aorta aneurysm ( J:110586 )

• ruptured aortic aneurysm involving the ascending aorta

• lamellar unit of the medial layer are disorganized and vascular smooth muscle cells have lost contact with neighboring cells and have a disorganized extracellular matrix within the aneurysm

• detachment of the endothelial lining is seen in pre- and post-mortem mice

hemopericardium ( J:110586 )

hemothorax ( J:110586 )

respiratory system

hemothorax ( J:110586 )

overexpanded pulmonary alveolus ( J:110586 )

decreased respiration ( J:110586 )

• impaired pulmonary function

skeleton

abnormal rib morphology ( J:110586 )

• malformed

long ribs ( J:110586 )

muscle

abnormal diaphragm morphology ( J:110586 )

• collapse of the diaphragm may occur

diaphragmatic hernia ( J:110586 )

abnormal intercostal muscle morphology ( J:110586 )

• thinner

homeostasis/metabolism

hemopericardium ( J:110586 )

integument

abnormal skin tensile strength ( J:110586 )

• fragile skin

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
heart disease		DOID:114		J:110586
Marfan syndrome		DOID:14323	OMIM:154700	J:110586