Phenotypes Associated with This Genotype

Genotype
MGI:6286497

• Allelic Composition: Tg(Myoc*Y423H)#Sit/0
• Genetic Background: B6.FVB-Tg(Myoc*Y423H)#Sit

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

vision/eye

optic nerve degeneration ( J:116124 )

• optic nerve of 13 month old mice shows axonal degeneration

abnormal canal of Schlemm morphology ( J:116124 )

• mice exhibit the presence of detached cells in Schlemm's canal adjacent to the trabecular meshwork and breaks in the inner wall of Schlemm's canal

abnormal trabecular meshwork morphology ( J:116124 )

• mice show an increase in cell detachment from the trabecular meshwork trabeculae

abnormal retina neuronal layer morphology ( J:116124 )

• depletion of neuronal fibers in both the axonal fiber and inner plexiform layers of the peripheral retina

retina ganglion cell degeneration ( J:116124 )

• loss of about 20% of the retinal ganglion cells in the peripheral retina

• retinal ganglion cells in peripheral retina exhibit a decrease in nuclei size and an increase in TUNEL-positivity, indicating apoptotic cell death in the retinal ganglion cell layer

abnormal retina inner plexiform layer morphology ( J:116124 )

• depletion of neuronal fibers in the inner plexiform layers of the peripheral retina

• however, outer plexiform layers exhibit normal fiber densities

ocular hypertension ( J:116124 )

• intraocular pressure was about 2 mm Hg higher than in wild-type mice at 12-18 months of age, indicating a moderate elevation of intraocular pressure

nervous system

astrocytosis ( J:116124 )

• increase in astroglial immunoreactivity in optic nerves are the scleral level

• increase in GFAP immunoreactivity in Muller cells

retina ganglion cell degeneration ( J:116124 )

• loss of about 20% of the retinal ganglion cells in the peripheral retina

• retinal ganglion cells in peripheral retina exhibit a decrease in nuclei size and an increase in TUNEL-positivity, indicating apoptotic cell death in the retinal ganglion cell layer

optic nerve degeneration ( J:116124 )

• optic nerve of 13 month old mice shows axonal degeneration

axon degeneration ( J:116124 )

• optic nerve of 13 month old mice shows axonal degeneration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
open-angle glaucoma		DOID:1067	OMIM:137750 OMIM:177700 OMIM:602429 OMIM:603383 OMIM:606689 OMIM:608695 OMIM:608696 OMIM:609745 OMIM:609887 OMIM:610535 OMIM:611274 OMIM:611276 OMIM:613100	J:116124