nmnat1 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (137)

Interactants (39)

XB-GENEPAGE-993367

Gene Symbol: nmnat1 Gene Name: nicotinamide nucleotide adenylyltransferase 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (25 sources): Abnormal electroretinogram, Abnormality of neuronal migration, Abnormality of retinal pigmentation, Abnormality of the optic disc, Aplasia/Hypoplasia of the cerebellar vermis, Attenuation of retinal blood vessels, Cataract, Color vision defect, Encephalocele, Global developmental delay, Hearing impairment, Hemiplegia/hemiparesis, Hypermetropia, Hypotonia, Intellectual disability, Keratoconus, Macular coloboma, Nyctalopia, Nystagmus, Optic atrophy, Optic disc pallor, Photophobia, Seizure, Severely reduced visual acuity, Visual impairment [+]
Mouse (28 sources): abnormal bone mineralization, abnormal cone electrophysiology, abnormal retina inner nuclear layer morphology, abnormal retina rod cell outer segment morphology, abnormal retina vasculature morphology, abnormal rod electrophysiology, behavior/neurological phenotype, decreased a-wave amplitude, decreased b-wave amplitude, decreased retina inner nuclear layer thickness, decreased total retina thickness, disorganized retina inner nuclear layer, embryonic lethality, complete penetrance, growth/size/body region phenotype, increased bone mineral content, increased endoplasmic reticulum stress, nervous system phenotype, no abnormal phenotype detected, photoreceptor inner segment degeneration, photoreceptor outer segment degeneration, prenatal lethality, complete penetrance, reproductive system phenotype, retina outer nuclear layer degeneration, retina photoreceptor degeneration, retina pigment epithelium atrophy, retina rod cell degeneration, short photoreceptor outer segment, thin retina outer nuclear layer [+]
View all ortholog results at Monarch