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Phenotypes Associated with This Genotype
Genotype
MGI:5705749
Allelic
Composition
Tg(OPTN*E50K,-EGFP)1Mde/0
Genetic
Background
involves: C57BL/6 * C57BL/6N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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
• increase in stressed or degenerating axons in optic nerves
• 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
• 18 month old mice show a decrease in contrast sensitivity across a range of contrasts

nervous system
• 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
• increase in stressed or degenerating axons in optic nerves
• 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


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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last database update
11/05/2019
MGI 6.14
The Jackson Laboratory