Symbol
Name
ID

Opa1
OPA1, mitochondrial dynamin like GTPase
MGI:1921393

Phenotype annotations related to vision/eye

Darker colors indicate more annotations

Human Phenotypes

Cataract

Hypoplastic optic chiasm

Optic atrophy

Temporal optic disc pallor

Morning glory anomaly

Retinal degeneration

Abnormal amplitude of pattern reversal visual evoked potentials

Strabismus

Duane anomaly

Nystagmus

Horizontal nystagmus

Ophthalmoplegia

Progressive external ophthalmoplegia

Color vision defect

Dyschromatopsia

Tritanomaly

Red-green dyschromatopsia

Visual impairment

Reduced visual acuity

Blindness

Moderately reduced visual acuity

Central scotoma

Centrocecal scotoma

Progressive visual loss

Ptosis

Disease(s) Associated with OPA1

Behr syndrome

dominant optic atrophy plus syndrome

mitochondrial DNA depletion syndrome 14

optic atrophy

optic atrophy 1

Mouse Phenotypes		decreased retina ganglion cell number	abnormal retina ganglion cell morphology	retina ganglion cell degeneration	abnormal optic nerve morphology	abnormal optic disk morphology	thin retina inner plexiform layer	abnormal retina nerve fiber layer morphology	abnormal eye electrophysiology	abnormal visual evoked potential	abnormal vision
Availability	Mouse Genotype	decreased retina ganglion cell number	abnormal retina ganglion cell morphology	retina ganglion cell degeneration	abnormal optic nerve morphology	abnormal optic disk morphology	thin retina inner plexiform layer	abnormal retina nerve fiber layer morphology	abnormal eye electrophysiology	abnormal visual evoked potential	abnormal vision
	Opa1^M1Bewi/Opa1⁺
	Opa1^Q285X/Opa1⁺
	Opa1^tm1.1Geno/Opa1⁺

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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