Phenotypes Associated with This Genotype

Genotype
MGI:5641920

• Allelic Composition: Tg(MYOC*Y437H)#Sit/0
• Genetic Background: B6.FVB-Tg(MYOC*T437C)#Sit

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

vision/eye

retina ganglion cell degeneration ( J:135177 )

• loss of about 20% of retinal ganglion cells in the peripheral retinas at 18 months of age

• 55% fewer SMI-32-marked large retinal ganglion cells in peripheral retinas

abnormal optic nerve morphology ( J:135177 )

• optic nerves show loss of axonal profiles at the nerve periphery, disarray of fascicular organization and degradation of myelin sheaths at 18 months of age

abnormal retina nerve fiber layer morphology ( J:135177 )

• overall structure of axon bundles of the retinal nerve fiber layer is distorted and many fibers have a beaded appearance, indicating retinal axon degeneration

ocular hypertension ( J:135177 )

• intraocular pressure is about 2 mm Hg higher in the eyes of 18-month old mutants than in wild-type mice during the day from 9 am to 1 pm

• intraocular pressure is about 3.4 mm Hg higher in the eyes of 18-month old mutants than in wild-type mice during the night from 9 pm to 1 am

nervous system

abnormal axon fasciculation ( J:135177 )

• optic nerves show loss of axonal profiles at the nerve periphery and disarray of fascicular organization at 18 months of age

retina ganglion cell degeneration ( J:135177 )

• loss of about 20% of retinal ganglion cells in the peripheral retinas at 18 months of age

• 55% fewer SMI-32-marked large retinal ganglion cells in peripheral retinas

abnormal optic nerve morphology ( J:135177 )

• optic nerves show loss of axonal profiles at the nerve periphery, disarray of fascicular organization and degradation of myelin sheaths at 18 months of age

axon degeneration ( J:135177 )

• overall structure of axon bundles of the retinal nerve fiber layer is distorted and many fibers have a beaded appearance, indicating retinal axon degeneration

cellular

abnormal axon fasciculation ( J:135177 )

• optic nerves show loss of axonal profiles at the nerve periphery and disarray of fascicular organization at 18 months of age

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:135177