Symbol Name ID |
Spr
sepiapterin reductase MGI:103078 |
Darker colors indicate more annotations |
Human Phenotypes | Hyperphenylalaninemia |
Transient hyperphenylalaninemia |
Abnormal circulating biopterin concentration |
Abnormal circulating neopterin concentration |
Reduced sepiapterin reductase activity in cultured fibroblasts |
Temperature instability |
Disease(s) Associated with SPR | ||||||
sepiapterin reductase deficiency |
Mouse Phenotypes | increased circulating phenylalanine level |
decreased phenylalanine level |
decreased circulating insulin-like growth factor I level |
decreased dopamine level |
decreased noradrenaline level |
abnormal enzyme/coenzyme level |
abnormal biopterin level |
abnormal neopterin level |
decreased serotonin level |
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Availability | Mouse Genotype | |||||||||
Sprtm1Lex/Sprtm1Lex | ||||||||||
Sprtm1Spo/Sprtm1Spo |
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 05/28/2024 MGI 6.13 |
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