|
Symbol Name ID |
Nf1
neurofibromin 1 MGI:97306 |
| Darker colors indicate more annotations |
| Human Phenotypes | Malar flattening |
Macrocephaly |
Relative macrocephaly |
Short neck |
Genu valgum |
Genu varum |
Tibial pseudarthrosis |
Cubitus valgus |
Joint stiffness |
Recurrent fractures |
Abnormality of the skeletal system |
Slender long bone |
Abnormal hip bone morphology |
Abnormal thorax morphology |
Pectus carinatum |
Superior pectus carinatum |
Pectus excavatum |
Pectus excavatum of inferior sternum |
Kyphosis |
Scoliosis |
Osteopenia |
Skeletal dysplasia |
| Disease(s) Associated with NF1 | ||||||||||||||||||||||
| neurofibromatosis 1 | ||||||||||||||||||||||
| neurofibromatosis-Noonan syndrome | ||||||||||||||||||||||
| Watson syndrome |
| Mouse Phenotypes | increased osteoclast cell number |
abnormal bone healing |
decreased bone mineral density |
increased compact bone volume |
abnormal osteoblast cell number |
abnormal cartilage morphology |
abnormal osteoid morphology |
increased osteoid thickness |
abnormal endochondral bone ossification |
fragile skeleton |
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| Availability | Mouse Genotype | ||||||||||
| Nf1tm1Par/Nf1tm1Par Tg(Prrx1-cre)1Cjt/0 (conditional) |
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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 04/30/2024 MGI 6.23 |
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