|
Symbol Name ID |
Gnas
GNAS complex locus MGI:95777 |
| Darker colors indicate more annotations |
| Human Phenotypes | Thickened calvaria |
Enamel hypoplasia |
Short neck |
Diaphyseal sclerosis |
Short finger |
Short toe |
Brachydactyly |
Short metatarsal |
Cortical subperiosteal resorption of humeral metaphyses |
Short metacarpal |
Limb undergrowth |
Limitation of joint mobility |
Ankylosis |
Bone pain |
Kyphosis |
Increased bone mineral density |
Increased bone density with cystic changes |
Osteopenia |
Osteoporosis |
Ectopic ossification in muscle tissue |
Subcutaneous ossification |
Osteoarthritis |
Ectopic calcification |
Basal ganglia calcification |
Choroid plexus calcification |
| Disease(s) Associated with GNAS | |||||||||||||||||||||||||
| ACTH-independent macronodular adrenal hyperplasia 1 | |||||||||||||||||||||||||
| Albright's hereditary osteodystrophy | |||||||||||||||||||||||||
| progressive osseous heteroplasia | |||||||||||||||||||||||||
| pseudohypoparathyroidism | |||||||||||||||||||||||||
| pseudohypoparathyroidism type IB | |||||||||||||||||||||||||
| pseudopseudohypoparathyroidism |
| Mouse Phenotypes | abnormal craniofacial bone morphology |
abnormal hyoid bone morphology |
abnormal hyoid bone body morphology |
abnormal incisor morphology |
abnormal mandible morphology |
absent mandibular angle |
absent mandibular condyloid process |
absent mandibular coronoid process |
mandible hypoplasia |
short mandible |
abnormal maxilla morphology |
abnormal premaxilla morphology |
maxilla hypoplasia |
short maxilla |
domed cranium |
palate bone hypoplasia |
absent nasal capsule |
abnormal nasal septum cartilage morphology |
short femur |
abnormal tibia morphology |
abnormal thyroid cartilage morphology |
abnormal long bone epiphyseal plate morphology |
abnormal long bone epiphyseal plate proliferative zone |
abnormal long bone epiphysis morphology |
decreased bone mineral density |
abnormal cartilage development |
ectopic bone |
abnormal bone ossification |
premature metopic suture closure |
premature bone ossification |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||
| Gnastm1Gwa/Gnas+ | |||||||||||||||||||||||||||||||
| Gnastm2Jop/Gnas+ | |||||||||||||||||||||||||||||||
| Gnastm3Lsw/Gnastm3Lsw Tg(Col2a1-cre)1Rsjo/0 (conditional) |
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| Gnastm5.1Lsw/Gnastm5.1Lsw H2az2Tg(Wnt1-cre)11Rth/H2az2+ (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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