|
Symbol Name ID |
Fbn1
fibrillin 1 MGI:95489 |
| Darker colors indicate more annotations |
| Human Phenotypes | Short phalanx of finger |
Broad phalanges of the hand |
Short thumb |
Short finger |
Arachnodactyly |
Hammertoe |
Flexion contracture of toe |
Brachydactyly |
Abnormal femur morphology |
Short metatarsal |
Broad metatarsal |
Metatarsus adductus |
Equinus calcaneus |
Short foot |
Fifth metacarpal with ulnar notch |
Short metacarpal |
Broad metacarpals |
Short palm |
Small hand |
Medial rotation of the medial malleolus |
Narrow foot |
Pes cavus |
Pes planus |
Talipes |
Protrusio acetabuli |
Knee flexion contracture |
Genu recurvatum |
Broad palm |
Elbow flexion contracture |
Limited elbow extension |
| Disease(s) Associated with FBN1 | ||||||||||||||||||||||||||||||
| acromicric dysplasia | ||||||||||||||||||||||||||||||
| autosomal dominant isolated ectopia lentis 1 | ||||||||||||||||||||||||||||||
| geleophysic dysplasia 2 | ||||||||||||||||||||||||||||||
| Marfan syndrome | ||||||||||||||||||||||||||||||
| stiff skin syndrome | ||||||||||||||||||||||||||||||
| Weill-Marchesani syndrome |
| Mouse Phenotypes | brachyphalangia |
short radius |
short ulna |
short tibia |
short metacarpal bones |
|
| Availability | Mouse Genotype | |||||
| Fbn1tm3.2Lysa/Fbn1tm3.2Lysa | ||||||
| Fbn1tm3.2Lysa/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 05/07/2024 MGI 6.23 |
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