|
Symbol Name ID |
Gnas
GNAS complex locus MGI:95777 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Hypocalcemia |
Hypocalcemic seizures |
Hypocalcemic tetany |
Hyperphosphatemia |
Decreased resting energy expenditure |
Low urinary cyclic AMP response to PTH administration |
Elevated circulating parathyroid hormone level |
Decreased circulating ACTH concentration |
Elevated circulating thyroid-stimulating hormone concentration |
Increased circulating cortisol level |
Primary hypercortisolism |
Ectopic calcification |
Basal ganglia calcification |
Choroid plexus calcification |
| Disease(s) Associated with GNAS | ||||||||||||||
| ACTH-independent macronodular adrenal hyperplasia 1 | ||||||||||||||
| Albright's hereditary osteodystrophy | ||||||||||||||
| obesity | ||||||||||||||
| progressive osseous heteroplasia | ||||||||||||||
| pseudohypoparathyroidism | ||||||||||||||
| pseudohypoparathyroidism type IB |
| Mouse Phenotypes | homeostasis/metabolism phenotype |
increased fatty acid oxidation |
decreased susceptibility to diet-induced obesity |
impaired adaptive thermogenesis |
abnormal blood homeostasis |
decreased circulating glucose level |
hypoglycemia |
increased circulating glucose level |
increased circulating ghrelin level |
decreased circulating glucagon level |
increased circulating glucagon level |
increased circulating corticosterone level |
decreased circulating insulin level |
increased circulating insulin level |
decreased circulating leptin level |
increased circulating leptin level |
decreased circulating aldosterone level |
decreased circulating parathyroid hormone level |
increased circulating parathyroid hormone level |
decreased circulating cholesterol level |
decreased circulating free fatty acids level |
decreased circulating triglyceride level |
increased circulating triglyceride level |
decreased circulating calcium level |
decreased circulating phosphate level |
increased circulating phosphate level |
decreased circulating renin level |
cyanosis |
increased urine dopamine level |
decreased urine noradrenaline level |
increased urine noradrenaline level |
abnormal urine catecholamine level |
abnormal energy expenditure |
increased energy expenditure |
edema |
hydrops fetalis |
skin edema |
abnormal gas homeostasis |
increased carbon dioxide production |
decreased oxygen consumption |
increased oxygen consumption |
abnormal glucose homeostasis |
impaired glucose tolerance |
improved glucose tolerance |
increased liver glycogen level |
increased insulin sensitivity |
insulin resistance |
decreased vitamin D level |
decreased liver triglyceride level |
decreased skeletal muscle triglyceride level |
abnormal urine homeostasis |
decreased urine osmolality |
increased urine prostaglandin level |
increased basal metabolism |
abnormal enzyme/coenzyme activity |
abnormal renin activity |
abnormal response/metabolism to endogenous compounds |
insensitivity to parathyroid hormone |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GnasOedsml/Gnas+ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GnasOedsml/Gnastm1Jop | * | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gnastm1Gwa/Gnas+ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gnastm1Kel/Gnas+ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gnastm1Lsw/Gnas+ | * | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gnastm2.1Lsw/Gnas+ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gnastm2Jop/Gnas+ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gnastm4Lsw/Gnas+ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gnastm3Lsw/Gnastm3Lsw Tg(Col2a1-cre)1Rsjo/0 (conditional) |
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| Gnastm3Lsw/Gnastm3Lsw Ren1tm2(cre)Gom/Ren1+ (conditional) |
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| Gnastm5.1Lsw/Gnastm5.1Lsw Tg(Alb1-cre)1Dlr/? (conditional) |
* | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gnastm5.1Lsw/Gnastm5.1Lsw Tg(Slc5a2-cre)1Tauc/0 (conditional) |
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| Gnastm5.1Lsw/Gnastm5.1Lsw Tg(Fabp4-cre)1Abel/0 (conditional) |
* | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 05/21/2024 MGI 6.23 |
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