Phenotypes Associated with This Genotype

Genotype
MGI:5705749

• Allelic Composition: Tg(OPTN*E50K,-EGFP)1Mde/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

retina ganglion cell degeneration ( J:222642 )

• mice exhibit age-related loss of retinal ganglion cells, with a 40% decrease in retinal ganglion cell density at 18 months of age

• however, mice exhibit normal eye anatomy and intraocular pressure, no loss of retinal layers, and unaffected retinal ganglion cell axonal targeting

abnormal optic nerve morphology ( J:222642 )

• increase in stressed or degenerating axons in optic nerves

decreased visual acuity ( J:222642 )

• 18 month old mice show attenuated visual acuity response at 0.05 cpd, but not other acuity levels despite normal acuity thresholds

• however, nerve conduction velocity is normal

abnormal visual contrast sensitivity ( J:222642 )

• 18 month old mice show a decrease in contrast sensitivity across a range of contrasts

nervous system

retina ganglion cell degeneration ( J:222642 )

• mice exhibit age-related loss of retinal ganglion cells, with a 40% decrease in retinal ganglion cell density at 18 months of age

• however, mice exhibit normal eye anatomy and intraocular pressure, no loss of retinal layers, and unaffected retinal ganglion cell axonal targeting

abnormal optic nerve morphology ( J:222642 )

• increase in stressed or degenerating axons in optic nerves

axon degeneration ( J:222642 )

• increase in stressed or degenerating axons in optic nerves

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary open angle glaucoma		DOID:1070	OMIM:137760	J:222642