|
Symbol Name ID |
Fbn2
fibrillin 2 MGI:95490 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Brachycephaly |
Dolichocephaly |
Scaphocephaly |
Micrognathia |
Short neck |
Bowing of the long bones |
Camptodactyly of finger |
Congenital finger flexion contractures |
Adducted thumb |
Ulnar deviation of finger |
Arachnodactyly |
Metatarsus adductus |
Hip contracture |
Patellar dislocation |
Patellar subluxation |
Knee flexion contracture |
Limited knee extension |
Elbow flexion contracture |
Limited elbow extension |
Wrist flexion contracture |
Flexion contracture |
Congenital contracture |
Arthrogryposis multiplex congenita |
Distal arthrogryposis |
Camptodactyly |
Joint stiffness |
Pectus carinatum |
Kyphoscoliosis |
Congenital kyphoscoliosis |
Scoliosis |
Osteopenia |
| Disease(s) Associated with FBN2 | ||||||||||||||||||||||||||||||||
| congenital contractural arachnodactyly |
| Mouse Phenotypes | abnormal cranium morphology |
abnormal mandible morphology |
micrognathia |
abnormal zygomatic bone morphology |
abnormal carpal bone morphology |
fused phalanges |
abnormal humerus morphology |
abnormal radius morphology |
abnormal ulna morphology |
abnormal femur morphology |
abnormal fibula morphology |
abnormal tibia morphology |
abnormal skeleton morphology |
abnormal clavicle morphology |
abnormal pelvic girdle bone morphology |
abnormal rib morphology |
abnormal vertebral arch morphology |
vertebral fusion |
abnormal bone structure |
increased bone mineral content |
decreased bone mass |
abnormal joint morphology |
abnormal skeleton development |
abnormal bone remodeling |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||
| Fbn2em1(IMPC)Rbrc/Fbn2em1(IMPC)Rbrc | |||||||||||||||||||||||||
| Fbn2fp-4J/Fbn2fp-4J | |||||||||||||||||||||||||
| Fbn2mz/Fbn2mz | |||||||||||||||||||||||||
| Fbn2timon/Fbn2timon | |||||||||||||||||||||||||
| Fbn2tm1Rmz/Fbn2tm1Rmz | |||||||||||||||||||||||||
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 04/23/2024 MGI 6.23 |
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