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Symbol
Name
ID
Pofut1
protein O-fucosyltransferase 1
MGI:2153207
Phenotype annotations related to integument
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
Availability Mouse Genotype
Pofut1tm2Pst/Pofut1tm2Pst
Tg(MMTV-cre)1Mam/0  (conditional)

Contributing Projects:
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
The Jackson Laboratory