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Symbol
Name
ID
Fbn1
fibrillin 1
MGI:95489
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Flexion contracture of toe
Knee flexion contracture
Elbow flexion contracture
Flexion contracture
Camptodactyly
Abnormality of the musculature
Muscle weakness
Calcinosis
Decreased muscle mass
Disease(s) Associated with FBN1
Marfan syndrome
stiff skin syndrome
systemic scleroderma
Weill-Marchesani syndrome

Mouse Phenotypes
abnormal diaphragm morphology
diaphragmatic hernia
abnormal intercostal muscle morphology
Availability Mouse Genotype
Fbn1tm2Rmz/Fbn1tm2Rmz
Fbn1tm3Rmz/Fbn1tm3Rmz

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
08/02/2024
MGI 6.24
The Jackson Laboratory