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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Fbn1tm1Hcd
targeted mutation 1, Harry C Dietz
MGI:3690325
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Fbn1tm1Hcd/Fbn1tm1Hcd involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3690326
ht2
Fbn1tm1Hcd/Fbn1+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:3690327
cx3
Fbn1tm1Hcd/Fbn1+
Tgfb2tm1Doe/Tgfb2+
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J MGI:5444488


Genotype
MGI:3690326
hm1
Allelic
Composition
Fbn1tm1Hcd/Fbn1tm1Hcd
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die at P7 - P10 from aortic dissection (J:94428)

cardiovascular system
• die from vascular catastrophe indistinguishable from mice homozygous for severe hypomorphic alleles
• 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




Genotype
MGI:3690327
ht2
Allelic
Composition
Fbn1tm1Hcd/Fbn1+
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)
phenotype observed in females
phenotype observed in males
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 display 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
• mitral valve prolapse and regurgitation at 9 months of age

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
DO ID OMIM ID(s) Ref(s)
Marfan syndrome DOID:14323 OMIM:154700
J:91349 , J:94428




Genotype
MGI:5444488
cx3
Allelic
Composition
Fbn1tm1Hcd/Fbn1+
Tgfb2tm1Doe/Tgfb2+
Genetic
Background
involves: 129P2/OlaHsd * 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)
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (33 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• elastic fiber fragmentation and greater collagen deposition within the medial compartment of the aortic wall is increased compared to either single heterozygote
• 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
• aortic root aneurysm

growth/size/body
N
• mutants exhibit normal body size and growth

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Loeys-Dietz syndrome DOID:0050466 J:188799





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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
03/19/2024
MGI 6.23
The Jackson Laboratory