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Symbol
Name
ID
Fbn1
fibrillin 1
MGI:95489
Phenotype annotations related to cardiovascular system
*Aspects of the system are reported to show a normal phenotype.
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Aortic regurgitation
Aortic valve stenosis
Mitral regurgitation
Pulmonic stenosis
Congestive heart failure
Abnormality of cardiovascular system morphology
Ventricular septal defect
Mitral annular calcification
Mitral valve prolapse
Tricuspid valve prolapse
Aortic root aneurysm
Ascending tubular aorta aneurysm
Aortic dissection
Pulmonary artery dilatation
Patent ductus arteriosus
Disease(s) Associated with FBN1
Marfan syndrome
Weill-Marchesani syndrome

Mouse Phenotypes
cardiovascular system phenotype
abnormal cardiovascular system morphology
abnormal blood vessel morphology
abnormal aorta morphology
abnormal aorta wall morphology
abnormal aorta tunica adventitia morphology
abnormal aorta tunica intima morphology
abnormal aorta tunica media morphology
abnormal aorta elastic tissue morphology
abnormal aorta elastic fiber morphology
abnormal aorta elastin content
aortic elastic tissue lesions
increased aorta wall thickness
aortic sinus aneurysm
ascending aorta dilation
aortic aneurysm
aortic dissection
calcified artery
abnormal lung vasculature morphology
heart right ventricle hypertrophy
abnormal heart morphology
abnormal mitral valve morphology
mitral valve prolapse
abnormal heart left atrium morphology
dilated heart atrium
enlarged heart
cardiac hypertrophy
abnormal heart left ventricle morphology
abnormal heart right ventricle morphology
dilated heart right ventricle
hemopericardium
cardiac fibrosis
hemothorax
lung hemorrhage
hemorrhage
aortitis
Availability Mouse Genotype
Fbn1tm1.2Lysa/Fbn1tm1.2Lysa
Fbn1tm1Hcd/Fbn1tm1Hcd
Fbn1tm1Itl/Fbn1tm1Itl
Fbn1tm1Rmz/Fbn1tm1Rmz
Fbn1tm2.1Lysa/Fbn1tm2.1Lysa *
Fbn1tm2Rmz/Fbn1tm2Rmz
Fbn1tm3.2Lysa/Fbn1tm3.2Lysa *
Fbn1tm3Rmz/Fbn1tm3Rmz
Fbn1tm1.2Lysa/Fbn1+
Fbn1tm1Hcd/Fbn1+
Fbn1tm1Lper/Fbn1+ !
Fbn1tm3.2Lysa/Fbn1+ *
Fbn1Tsk/Fbn1+
Fbn1Tsk/Fbn1tm2Rmz
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(CMV-cre)1Cgn/0  (conditional)

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
06/11/2019
MGI 6.14
The Jackson Laboratory