Symbol Name ID |
Fbn1
fibrillin 1 MGI:95489 |
Darker colors indicate more annotations |
Human Phenotypes | Abnormal abdomen morphology |
Hepatomegaly |
Protuberant abdomen |
Incisional hernia |
Umbilical hernia |
Reduced upper to lower segment ratio |
Short stature |
Proportionate short stature |
Severe short stature |
Tall stature |
Disproportionate tall stature |
Disease(s) Associated with FBN1 | |||||||||||
acromicric dysplasia | |||||||||||
autosomal dominant isolated ectopia lentis 1 | |||||||||||
geleophysic dysplasia 2 | |||||||||||
Marfan syndrome | |||||||||||
mitral valve prolapse | |||||||||||
stiff skin syndrome | |||||||||||
systemic scleroderma | |||||||||||
Weill-Marchesani syndrome |
Mouse Phenotypes | decreased body fat mass |
decreased lean body mass |
decreased body weight |
enlarged chest |
abnormal postnatal growth/weight/body size |
decreased susceptibility to diet-induced obesity |
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Availability | Mouse Genotype | ||||||
Fbn1tm2Rmz/Fbn1tm2Rmz | |||||||
Fbn1em1Chop/Fbn1+ |
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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