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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
Abnormal cardiovascular system morphology
Ventricular septal defect
Bicuspid aortic valve
Mitral annular calcification
Mitral valve prolapse
Tricuspid valve prolapse
Ascending aortic dissection
Aortic root aneurysm
Ascending tubular aorta aneurysm
Aortic dissection
Pulmonary artery dilatation
Patent ductus arteriosus
Aortic regurgitation
Aortic valve stenosis
Mitral regurgitation
Mitral stenosis
Tricuspid regurgitation
Tricuspid stenosis
Pulmonic stenosis
Hypertension
Pulmonary arterial hypertension
Congestive heart failure
Telangiectasia
Disease(s) Associated with FBN1
geleophysic dysplasia 2
Marfan syndrome
mitral valve prolapse
stiff skin syndrome
systemic scleroderma
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
aortic elastic tissue lesions
increased aorta wall thickness
aortic sinus aneurysm
ascending aorta aneurysm
dilated ascending aorta
aortic dissection
calcified aorta
aortic aneurysm
abnormal lung vasculature morphology
abnormal mitral valve cusp morphology
mitral valve prolapse
increased heart left atrium size
increased heart left ventricle size
hemopericardium
hemothorax
lung hemorrhage
hemorrhage
mitral valve regurgitation
aortitis
Availability Mouse Genotype
Fbn1tm1Hcd/Fbn1tm1Hcd
Fbn1tm1Itl/Fbn1tm1Itl
Fbn1tm1Rmz/Fbn1tm1Rmz
Fbn1tm2.1Lysa/Fbn1tm2.1Lysa *
Fbn1tm2Rmz/Fbn1tm2Rmz
Fbn1tm3.2Lysa/Fbn1tm3.2Lysa *
Fbn1tm3Rmz/Fbn1tm3Rmz
Fbn1tm1Hcd/Fbn1+
Fbn1tm1Lper/Fbn1+ !
Fbn1tm3.2Lysa/Fbn1+ *
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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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory