mcoln1 Phenotypes

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Phenotypes

Gene Literature (6)

Nucleotides (176)

Interactants (58)

XB-GENEPAGE-982337

Gene Symbol: mcoln1 Gene Name: mucolipin TRP cation channel 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (44 sources): Abnormal abdomen morphology, Abnormal electroretinogram, Abnormal nasal morphology, Abnormality of mucopolysaccharide metabolism, Abnormality of retinal pigmentation, Absent speech, Achlorhydria, Aplasia/Hypoplasia of the abdominal wall musculature, Ataxia, Babinski sign, Behavioral abnormality, Biparietal narrowing, Cerebellar atrophy, Cerebral dysmyelination, Coarse facial features, Corneal opacity, Decreased light- and dark-adapted electroretinogram amplitude, Developmental stagnation, Dysplastic corpus callosum, Dystonia, EEG abnormality, Everted lower lip vermilion, Gait disturbance, Ganglioside accumulation, Generalized hypotonia, Genu recurvatum, Global developmental delay, Hypergastrinemia, Hyperreflexia, Hypotonia, Intellectual disability, Microcephaly, Microdontia, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Palmoplantar keratoderma, Photophobia, Progressive neurologic deterioration, Retinal degeneration, Retinopathy, Spastic tetraplegia, Strabismus, Visual impairment [+]
Mouse (15 sources): abnormal gastric parietal cell morphology, abnormal macrophage physiology, abnormal retina outer nuclear layer morphology, decreased brain size, decreased retina inner nuclear layer thickness, decreased skeletal muscle mass, enlarged stomach, hindlimb paralysis, hunched posture, increased stomach pH, limb grasping, premature death, short stride length, thin retina inner plexiform layer, weakness [+]
View all ortholog results at Monarch