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Human Disease and Mouse Model Detail
Human Disease

Term: Marfan Syndrome; MFS
OMIM ID: 154700

Synonyms Marfan Syndrome, Type I; MFS1
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
Fbn1 FBN1
  mousehuman...both mouse and human orthologous genes.
     
Mus81 MUS81
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Fbn1tm1Hcd/Fbn1+   involves: 129S1/Sv * 129X1/SvJ * C57BL/6J J:91349, J:94428
Fbn1tm1Lper/Fbn1+   involves: 129/Sv * CD-1 J:167276
Fbn1tm1Lper/Fbn1+   involves: 129/Sv * C57BL/6 * CD-1 J:167276
Fbn1tm1Rmz/Fbn1tm1Rmz   involves: 129S4/SvJae * C57BL/6J J:43199
Fbn1tm2Rmz/Fbn1tm2Rmz   involves: 129S1/Sv * 129X1/SvJ J:54081
Fbn1tm3Rmz/Fbn1tm3Rmz   Not Specified J:110586
Fbn1Tsk/Fbn1+   B10.D2/(58N)Sn J:21512
Fbn1Tsk/Fbn1+   B6.Cg-Fbn1Tsk J:30961
Models with phenotypic similarity to human disease where etiologies are distinct.2
Mus81tm1Esse/Mus81tm1Esse   involves: 129P2/OlaHsd * C57BL/6 J:133703
No similarity to the expected human disease phenotype was found.3
NOT Fbn1tm3.2Lysa/Fbn1tm3.2Lysa   Not Specified J:181493
NOT Fbn1tm3.2Lysa/Fbn1+   Not Specified J:181493

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
3One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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
04/03/2013
MGI 5.12
The Jackson Laboratory