Phenotypes Associated with This Genotype

Genotype
MGI:4412040

• Allelic Composition: Opa1^M1Bewi/Opa1⁺
• Genetic Background: involves: C3HeB/FeJ * C57BL/6

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

vision/eye

decreased retina ganglion cell number ( J:154966 )

• at 13 months, fewer nuclei are found in the retinal ganglion cell layer compared to in wild-type mice

• at 17 months, one mouse exhibits loss of cells in the retinal ganglion cell layer to 20% to 40% compared with wild-type mice

• however, at 23 months the number of cells in the retinal ganglion layer is normal

• loss of ganglion cell layer cells is age related and begins at 2 months of age

• cell loss at 9 months is primarily in the mid-periphery to periphery of the retina

abnormal optic nerve morphology ( J:154966 )

• at 8 months, optic nerves exhibit loss of large and small axons, disorganized structure, axonal swelling, irregular myelination, distorted axon shapes, increased collageneous material, decreased neurofibrils, and abnormal mitochondria with disorganized cristae unlike in wild-type mice

abnormal optic disk morphology ( J:154966 )

• mice exhibit gliosis of the optic nerve head unlike wild-type mice

thin retina inner plexiform layer ( J:154966 )

abnormal retina nerve fiber layer morphology ( J:154966 )

• thin

nervous system

gliosis ( J:154966 )

• mice exhibit gliosis of the optic nerve head unlike wild-type mice

decreased retina ganglion cell number ( J:154966 )

• at 13 months, fewer nuclei are found in the retinal ganglion cell layer compared to in wild-type mice

• at 17 months, one mouse exhibits loss of cells in the retinal ganglion cell layer to 20% to 40% compared with wild-type mice

• however, at 23 months the number of cells in the retinal ganglion layer is normal

• loss of ganglion cell layer cells is age related and begins at 2 months of age

• cell loss at 9 months is primarily in the mid-periphery to periphery of the retina

abnormal optic nerve morphology ( J:154966 )

• at 8 months, optic nerves exhibit loss of large and small axons, disorganized structure, axonal swelling, irregular myelination, distorted axon shapes, increased collageneous material, decreased neurofibrils, and abnormal mitochondria with disorganized cristae unlike in wild-type mice

abnormal optic disk morphology ( J:154966 )

• mice exhibit gliosis of the optic nerve head unlike wild-type mice

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:154966 )

N • mice exhibit normal hearing

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
optic atrophy		DOID:5723	OMIM:PS165500	J:154966