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Symbol Name ID |
Pah
phenylalanine hydroxylase MGI:97473 |
| Darker colors indicate more annotations |
| Human Phenotypes | Maternal hyperphenylalaninemia |
Hyperphenylalaninemia |
Reduced phenylalanine hydroxylase level |
Phenylpyruvic acidemia |
Elevated urinary phenylpyruvic acid level |
Increased level of hippuric acid in urine |
Phenylalaninuria |
Elevated urinary gamma-glutamylphenylalanine level |
Cerebral calcification |
| Disease(s) Associated with PAH | |||||||||
| phenylketonuria |
| Mouse Phenotypes | abnormal amino acid level |
abnormal circulating amino acid level |
increased circulating phenylalanine level |
decreased circulating tyrosine level |
increased phenylalanine level |
decreased circulating HDL cholesterol level |
decreased circulating LDL cholesterol level |
decreased circulating cholesterol level |
decreased nervous system dopamine level |
decreased noradrenaline level |
abnormal enzyme/coenzyme level |
decreased serotonin level |
abnormal urine homeostasis |
abnormal response/metabolism to endogenous compounds |
|
| Availability | Mouse Genotype | ||||||||||||||
| Pahem1Skym/Pahem1Skym | |||||||||||||||
| Pahenu1/Pahenu1 | |||||||||||||||
| Pahenu2/Pahenu2 | |||||||||||||||
| Pahenu3/Pahenu3 | |||||||||||||||
| Pahenu1/Pahenu2 | |||||||||||||||
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 04/09/2024 MGI 6.23 |
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