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Phenotypes Associated with This Genotype
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm2Rmz mutation (1 available); any Fbn1 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Clinical view of wild-type and Fbn1tm2Rmz/Fbn1tm2Rmz littermates

• mice die at an average age of 3.8 +/- 3.4 months (J:54081)
• mice die within 6-9 months of life due to aortic rupture (J:91815)

cardiovascular system
• loss of structural integrity of vessel wall
• newborns exhibit normal vasculature however with age develop late-onset vascular disease
• 12 of 20 exhibit adventitia hyperplasia with inflammation
• 6 of 20 exhibit intimal hyperplasia
• 9 of 20 exhibit medial necrosis and vasculitis
• 8 of 20 exhibit medial calcification
• in the most advanced aneurysms, an infiltrate of macrophages is found at the adventitial surface with extension into an obliterated tunica media
• calcification of intact elastic lamellae in the aorta is seen as early as 6 weeks of age
• calcified segments increase in frequency and coalesce over time
• hemomediastinum
• 9 of 20 exhibit medial aorta vasculitis

respiratory system
• peribronchial inflammation by 6 months of age
• impaired alveolar septation at 2 weeks of age
• immunostaining for active TGF-beta (a potential physiologic inhibitor of alveolar septation) is enhanced at 2 weeks of age
• significant airspace dilatation by 6 months of age
• by 6 months of age, airspace dilatation is associated with destructive changes, peribronchial inflammation, and increased expression of matrix metalloproteases, indicating emphysema
• mice with kyphosis and diaphragmatic hernia exhibit respiratory distress

• long bones are at most 10% longer than in wild-type
• dramatic overgrowth of the ribs

• increase in dorsal-ventral diameter of the chest because of overgrowth of the ribs

immune system
• 9 of 20 exhibit medial aorta vasculitis
• peribronchial inflammation by 6 months of age

• half of mice with severe kyphosis exhibit diaphragmatic hernia with thoracic migration of abdominal contents and respiratory distress


Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Marfan syndrome DOID:14323 OMIM:154700

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory