Symbol Name ID |
Fbn1
fibrillin 1 MGI:95489 |
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 |
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 |
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