Mouse Genome Informatics
ht
    Fbn1tm1Hcd/Fbn1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
cardiovascular system
• 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)
• progressive fragmentation of elastic fibers within the medial wall beginning around 2 months of age
• elastic fiber calcification is occasionally seen
• gradual thickening of the wall due to excessive deposition of amorphous matrix and increase in the number of vascular smooth muscle cells
• progressive increase in leaflet length and thickness during postnatal development
• leaflet length and thickness are intermediate between homozygous mutant and wild-type mice
• cells displays increased proliferation and reduced apoptosis
• in utero treatment with TGFB neutralizing antibodies at E14.5 and E17.5 rescues mitral valve morphology
• mitral valve prolapse and regurgitation at 9 months of age
• left atrium enlargement associated with mitral valve prolapse
• left ventricle enlargement associated with mitral valve prolapse

respiratory system
• distal airspace widening without inflammation or tissue damage

skeleton
• gradual postnatal development of skeletal abnormalities similar to those in other hypomorphic mouse models of Marfan Syndrome
• postnatal overgrowth
• gradual postnatal development

Mouse Models of Human Disease
OMIM IDRef(s)
Marfan Syndrome; MFS 154700 J:91349 , J:94428