Symbol
Name
ID

Pomgnt1
protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
MGI:1915523

Phenotype annotations related to vision/eye

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
Availability	Mouse Genotype	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
	Pomgnt1^{Gt(OST179231)Lex}/Pomgnt1^{Gt(OST179231)Lex}
	Pomgnt1^tm1Lex/Pomgnt1^tm1Lex

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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