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Phenotypes Associated with This Genotype
Genotype
MGI:5444488
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 (7 available)
Tgfb2tm1Doe mutation (2 available); any Tgfb2 mutation (5 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


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
09/10/2019
MGI 6.14
The Jackson Laboratory