Symbol Name ID |
Pomgnt1
protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase MGI:1915523 |
Darker colors indicate more annotations |
Human Phenotypes | Abnormal retinal vascular morphology |
Attenuation of retinal blood vessels |
Opacification of the corneal stroma |
Megalocornea |
Keratoconus |
Cataract |
Posterior subcapsular cataract |
Buphthalmos |
Optic atrophy |
Optic disc pallor |
Abnormality of retinal pigmentation |
Bone spicule pigmentation of the retina |
Hypoplasia of the retina |
Retinal degeneration |
Retinal atrophy |
Retinal dysplasia |
Microphthalmia |
Coloboma |
Abnormal electroretinogram |
Decreased light- and dark-adapted electroretinogram amplitude |
Undetectable electroretinogram |
Enlarged flash visual evoked potentials |
Strabismus |
Nystagmus |
Uncontrolled eye movements |
Ophthalmoplegia |
Myopia |
High myopia |
Nyctalopia |
Progressive night blindness |
Photophobia |
Photopsia |
Visual impairment |
Blindness |
Peripheral visual field loss |
Glaucoma |
Disease(s) Associated with POMGNT1 | ||||||||||||||||||||||||||||||||||||
autosomal recessive limb-girdle muscular dystrophy type 2O | ||||||||||||||||||||||||||||||||||||
congenital muscular dystrophy-dystroglycanopathy type A3 | ||||||||||||||||||||||||||||||||||||
muscular dystrophy-dystroglycanopathy type B3 | ||||||||||||||||||||||||||||||||||||
retinitis pigmentosa |
Mouse Phenotypes | abnormal retina blood vessel pattern |
retina microaneurysm |
decreased retina ganglion cell number |
abnormal optic nerve morphology |
abnormal retina inner limiting membrane morphology |
abnormal retina layer morphology |
thin retina inner nuclear layer |
thin retina outer nuclear layer |
retina degeneration |
abnormal eye electrophysiology |
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Availability | Mouse Genotype | ||||||||||
Pomgnt1Gt(OST179231)Lex/Pomgnt1Gt(OST179231)Lex | |||||||||||
Pomgnt1tm1Lex/Pomgnt1tm1Lex |
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 08/02/2024 MGI 6.24 |
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