Mouse Genome Informatics
hm
    Fbn1tm3Rmz/Fbn1tm3Rmz
Not Specified
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Fbn1tm3Rmz/Fbn1tm3Rmz mice exhibit aortic aneurysm and lesions, malformed ribs, and thinner intercostal muscles

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

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

respiratory system
• impaired pulmonary function

skeleton

other phenotype
• unusually fragile internal organs upon manipulation of the carcass

muscle
• collapse of the diaphragm may occur

homeostasis/metabolism

integument

Mouse Models of Human Disease
OMIM IDRef(s)
Marfan Syndrome; MFS 154700 J:110586