|
Symbol Name ID |
Phkb
phosphorylase kinase beta MGI:97578 |
| Darker colors indicate more annotations |
| Human Phenotypes | Hypercholesterolemia |
Hypertriglyceridemia |
Hyperuricemia |
Elevated circulating creatine kinase concentration |
Abnormal circulating enzyme concentration or activity |
Elevated circulating hepatic transaminase concentration |
Reduced hepatic phosphorylase kinase activity |
Hypoglycemia |
Fasting hypoglycemia |
Ketotic hypoglycemia |
Recurrent hypoglycemia |
Lactic acidosis |
Renal tubular acidosis |
Increased hepatic glycogen content |
Increased muscle glycogen content |
Myoglobinuria |
Exercise intolerance |
| Disease(s) Associated with PHKB | |||||||||||||||||
| glycogen storage disease IXb |
| Mouse Phenotypes | increased blood uric acid level |
decreased fasting circulating glucose level |
decreased circulating glucose level |
increased circulating ketone body level |
increased circulating triglyceride level |
increased circulating alanine transaminase level |
increased circulating alkaline phosphatase level |
increased circulating aspartate transaminase level |
enhanced gluconeogenesis |
decreased glycogen catabolism rate |
increased liver glycogen level |
decreased liver triglyceride level |
abnormal enzyme/coenzyme activity |
abnormal lipid metabolism |
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| Availability | Mouse Genotype | ||||||||||||||
| Phkbem1(IMPC)J/Phkbem1(IMPC)J | |||||||||||||||
| Phkbem1(IMPC)J/Phkb+ | |||||||||||||||
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 03/25/2025 MGI 6.24 |
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