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Phenotypes Associated with This Genotype
Genotype
MGI:3652414
Allelic
Composition
Fbn1tm3Rmz/Fbn1tm3Rmz
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm3Rmz mutation (0 available); any Fbn1 mutation (86 available)
phenotype observed in females
phenotype observed in males
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
• the elastic lamellae appear thin and disorganized beginning between P10 and P14
• abnormalities in the lamellar unit are seen both inside and outside of the aortic aneurysm
• 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

muscle
• collapse of the diaphragm may occur

homeostasis/metabolism

integument

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/12/2017
MGI 6.10
The Jackson Laboratory