Symbol Name ID |
Phyh
phytanoyl-CoA hydroxylase MGI:891978 |
Darker colors indicate more annotations |
Human Phenotypes | Abnormality of metabolism/homeostasis |
Elevated circulating phytanic acid concentration |
Increased CSF protein concentration |
Reduced phytanic acid oxidase activity in cultured fibroblasts |
Very long chain fatty acid accumulation |
Epiphyseal stippling |
Disease(s) Associated with PHYH | ||||||
Refsum disease | ||||||
Zellweger syndrome |
Mouse Phenotypes | abnormal blood homeostasis |
abnormal circulating lipid level |
decreased circulating cholesterol level |
decreased circulating free fatty acids level |
decreased circulating triglyceride level |
increased circulating alanine transaminase level |
increased circulating amylase level |
lipidosis |
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Availability | Mouse Genotype | ||||||||
Phyhtm1Safe/Phyhtm1Safe |
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 08/02/2024 MGI 6.24 |
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