mc1r Phenotypes

XB-GENEPAGE-1018417

Gene Symbol: mc1r Gene Name: melanocortin 1 receptor

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (51 sources): Abnormality of skin pigmentation, Abnormality of the optic nerve, Albinism, Anteverted nares, Basal cell carcinoma, Blue irides, Broad forehead, Broad nasal tip, Congenital giant melanocytic nevus, Cutaneous melanoma, Deep philtrum, Everted lower lip vermilion, Exotropia, Freckles in sun-exposed areas, Freckling, Full cheeks, Generalized hirsutism, Hydrocephalus, Hypertelorism, Hypopigmentation of hair, Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypopigmented skin patches, Hypoplasia of the fovea, Iris hypopigmentation, Long philtrum, Melanoma, Myopia, Narrow nasal ridge, Neoplasm, Neoplasm of the skin, Nevus, Nevus spilus, Nystagmus, Open mouth, Periorbital fullness, Photophobia, Prominence of the premaxilla, Prominent forehead, Pruritus, Red hair, Reduced visual acuity, Rhabdomyosarcoma, Round face, Sarcoma, Seizure, Short nose, Squamous cell carcinoma of the skin, Strabismus, Subcutaneous nodule, Visual impairment [+]
Mouse (18 sources): abnormal epidermal melanocyte morphology, abnormal hair follicle melanogenesis, abnormal hair follicle pheomelanosome pheomelanin content, abnormal keratinocyte apoptosis, abnormal melanogenesis, abnormal pain threshold, abnormal pinna hair pigmentation, abnormal tail hair pigmentation, abnormal touch/ nociception, analgesia, darkened coat color, decreased ear pigmentation, decreased eosinophil cell number, decreased tail pigmentation, hyperpigmentation, increased cellular sensitivity to ionizing radiation, pigmentation phenotype, yellow coat color [+]
View all ortholog results at Monarch