Phenotypes associated with this allele
Allelic Composition |
Fbn1tm1Hcd/Fbn1tm1Hcd
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Genetic Background |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm1Hcd mutation
(1 available);
any
Fbn1 mutation
(171 available)
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mortality/aging
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• die at P7 - P10 from aortic dissection
(J:94428)
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cardiovascular system
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• die from vascular catastrophe indistinguishable from mice homozygous for severe hypomorphic alleles
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• progressive increase in leaflet length and thickness during postnatal development first becoming significantly different from wild-type at P6.5 and P4.5, respectively
• the leaflet tips fold back and fuse to more proximal segments
• cells display increased proliferation and reduced apoptosis
• in utero treatment with TGFB neutralizing antibodies at E14.5 and E17.5 reduces mitral valve overgrowth
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Allelic Composition |
Fbn1tm1Hcd/Fbn1+
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Genetic Background |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fbn1tm1Hcd mutation
(1 available);
any
Fbn1 mutation
(171 available)
|
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cardiovascular system
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• progressive deterioration within the medial layer, with elastic fiber fragmentation and disarray of vascular smooth muscle cells begins around 2 months of age
(J:91349)
• however, no intimal hyperplasia, aortic inflammation, or aortic dissection are detected and life span is similar to wild-type mice
(J:91349)
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• progressive fragmentation of elastic fibers within the medial wall beginning around 2 months of age
• elastic fiber calcification is occasionally seen
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• gradual thickening of the wall due to excessive deposition of amorphous matrix and increase in the number of vascular smooth muscle cells
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• progressive increase in leaflet length and thickness during postnatal development
• leaflet length and thickness are intermediate between homozygous mutant and wild-type mice
• cells display increased proliferation and reduced apoptosis
• in utero treatment with TGFB neutralizing antibodies at E14.5 and E17.5 rescues mitral valve morphology
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• mitral valve prolapse and regurgitation at 9 months of age
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• left atrium enlargement associated with mitral valve prolapse
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• left ventricle enlargement associated with mitral valve prolapse
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• mitral valve prolapse and regurgitation at 9 months of age
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respiratory system
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• distal airspace widening without inflammation or tissue damage
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skeleton
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• gradual postnatal development of skeletal abnormalities similar to those in other hypomorphic mouse models of Marfan Syndrome
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• gradual postnatal development
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Allelic Composition |
Fbn1tm1Hcd/Fbn1+ Tgfb2tm1Doe/Tgfb2+
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Genetic Background |
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J |
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cardiovascular system
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• elastic fiber fragmentation and greater collagen deposition within the medial compartment of the aortic wall is increased compared to either single heterozygote
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• mutants show an increase in aortic root dimension at 2 and 4 months of age compared to either single heterozygote
• aortic dilatation is specific to the aortic root
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growth/size/body
N |
• mutants exhibit normal body size and growth
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