|
Symbol Name ID |
Gch1
GTP cyclohydrolase 1 MGI:95675 |
| Darker colors indicate more annotations |
| Human Phenotypes | Increased CSF phenylalanine concentration |
Stroke |
Ischemic stroke |
Dysphagia |
Abnormality of the nervous system |
Choreoathetosis |
Tremor |
Irritability |
Lethargy |
Progressive neurologic deterioration |
Intellectual disability, progressive |
Dystonia |
Hyperkinetic movements |
Global developmental delay |
Seizure |
| Disease(s) Associated with GCH1 | |||||||||||||||
| BH4-deficient hyperphenylalaninemia B | |||||||||||||||
| cerebral infarction | |||||||||||||||
| sickle cell anemia |
| Mouse Phenotypes | abnormal brain morphology |
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| Availability | Mouse Genotype | |
| Gch1em1Ypt/Gch1em1Ypt | ||
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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