Symbol Name ID |
Pofut1
protein O-fucosyltransferase 1 MGI:2153207 |
Darker colors indicate more annotations |
Human Phenotypes | Palmar pits |
Acne inversa |
Abnormal fingernail morphology |
Epidermal acanthosis |
Inguinal freckling |
Hypermelanotic macule |
Progressive reticulate hyperpigmentation |
Reticular hyperpigmentation |
Mixed hypo- and hyperpigmentation of the skin |
Hyperpigmented/hypopigmented macules |
Hypomelanotic macule |
Reticulated skin pigmentation |
Generalized abnormality of skin |
Epidermoid cyst |
Hypopigmented macule |
Papule |
Erythematous papule |
Hyperkeratotic papule |
Hyperpigmented papule |
Digital pitting scar |
Skin vesicle |
Hypergranulosis |
Hyperkeratosis |
Follicular hyperkeratosis |
Pruritus |
Keratoacanthoma |
Disease(s) Associated with POFUT1 | ||||||||||||||||||||||||||
Dowling-Degos disease |
Mouse Phenotypes | abnormal mammary gland growth during pregnancy |
epidermal cyst |
hyperkeratosis |
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Availability | Mouse Genotype | |||
Pofut1tm2Pst/Pofut1tm2Pst Tg(MMTV-cre)1Mam/0 (conditional) |
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 04/23/2024 MGI 6.23 |
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