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Phenotypes Associated with This Genotype
Genotype
MGI:3619460
Allelic
Composition
Fbn1tm2Rmz/Fbn1tm2Rmz
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm2Rmz mutation (1 available); any Fbn1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Clinical view of wild-type and Fbn1tm2Rmz/Fbn1tm2Rmz littermates

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

cardiovascular system
• loss of structural integrity of vessel wall (J:54081)
• newborns exhibit normal vasculature however with age develop late-onset vascular disease (J:54081)
• loss of structural integrity of vessel wall (J:54081)
• newborns exhibit normal vasculature however with age develop late-onset vascular disease (J:54081)
• 12 of 20 exhibit adventitia hyperplasia with inflammation (J:54081)
• 12 of 20 exhibit adventitia hyperplasia with inflammation (J:54081)
• 6 of 20 exhibit intimal hyperplasia (J:54081)
• 6 of 20 exhibit intimal hyperplasia (J:54081)
• 9 of 20 exhibit medial necrosis and vasculitis (J:54081)
• 8 of 20 exhibit medial calcification (J:54081)
• 9 of 20 exhibit medial necrosis and vasculitis (J:54081)
• 8 of 20 exhibit medial calcification (J:54081)
• in the most advanced aneurysms, an infiltrate of macrophages is found at the adventitial surface with extension into an obliterated tunica media (J:54081)
• in the most advanced aneurysms, an infiltrate of macrophages is found at the adventitial surface with extension into an obliterated tunica media (J:54081)
• calcification of intact elastic lamellae in the aorta is seen as early as 6 weeks of age (J:54081)
• calcified segments increase in frequency and coalesce over time (J:54081)
• calcification of intact elastic lamellae in the aorta is seen as early as 6 weeks of age (J:54081)
• calcified segments increase in frequency and coalesce over time (J:54081)
• hemomediastinum (J:54081)
• hemomediastinum (J:54081)
• 9 of 20 exhibit medial aorta vasculitis (J:54081)
• 9 of 20 exhibit medial aorta vasculitis (J:54081)

respiratory system
• peribronchial inflammation by 6 months of age (J:91815)
• peribronchial inflammation by 6 months of age (J:91815)
• impaired alveolar septation at 2 weeks of age (J:91815)
• immunostaining for active TGF-beta (a potential physiologic inhibitor of alveolar septation) is enhanced at 2 weeks of age (J:91815)
• impaired alveolar septation at 2 weeks of age (J:91815)
• immunostaining for active TGF-beta (a potential physiologic inhibitor of alveolar septation) is enhanced at 2 weeks of age (J:91815)
• significant airspace dilatation by 6 months of age (J:91815)
• significant airspace dilatation by 6 months of age (J:91815)
• by 6 months of age, airspace dilatation is associated with destructive changes, peribronchial inflammation, and increased expression of matrix metalloproteases, indicating emphysema (J:91815)
• by 6 months of age, airspace dilatation is associated with destructive changes, peribronchial inflammation, and increased expression of matrix metalloproteases, indicating emphysema (J:91815)
• mice with kyphosis and diaphragmatic hernia exhibit respiratory distress (J:54081)
• mice with kyphosis and diaphragmatic hernia exhibit respiratory distress (J:54081)

skeleton
• long bones are at most 10% longer than in wild-type (J:54081)
• long bones are at most 10% longer than in wild-type (J:54081)
• dramatic overgrowth of the ribs (J:54081)
• dramatic overgrowth of the ribs (J:54081)

growth/size/body
• increase in dorsal-ventral diameter of the chest because of overgrowth of the ribs (J:54081)
• increase in dorsal-ventral diameter of the chest because of overgrowth of the ribs (J:54081)

immune system
• 9 of 20 exhibit medial aorta vasculitis (J:54081)
• 9 of 20 exhibit medial aorta vasculitis (J:54081)
• peribronchial inflammation by 6 months of age (J:91815)
• peribronchial inflammation by 6 months of age (J:91815)

muscle
• half of mice with severe kyphosis exhibit diaphragmatic hernia with thoracic migration of abdominal contents and respiratory distress (J:54081)
• half of mice with severe kyphosis exhibit diaphragmatic hernia with thoracic migration of abdominal contents and respiratory distress (J:54081)

homeostasis/metabolism

Mouse Models of Human Disease
OMIM ID Ref(s)
Marfan Syndrome; MFS 154700 J:54081


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
02/02/2016
MGI 6.02
The Jackson Laboratory