Phenotypes associated with this allele

• Allele Symbol: Optn^em1Hyua
• Allele Name: endonuclease-mediated mutation 1, Huiping Yuan
• Allele ID: MGI:7278809
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Optn^em1Hyua/Optn^em1Hyua	C57BL/6J-Optn^em1Hyua	MGI:7279070
ht2	Optn^em1Hyua/Optn^+	C57BL/6J-Optn^em1Hyua	MGI:7531850

Genotype
MGI:7279070

hm1

• Allelic Composition: Optn^em1Hyua/Optn^em1Hyua
• Genetic Background: C57BL/6J-Optn^em1Hyua

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

behavior/neurological

abnormal behavioral response to light ( J:303304 )

• longer stay in light chamber in light/dark transition test at age 16 months

• normal length of stay in light chamber in light/dark transition test at age 16 months after rapamycin treatment

vision/eye

vision/eye phenotype ( J:303304 )

• normal IOP (intraocular pressure) at age 16 months

retina ganglion cell degeneration ( J:324291 )

• density of retinal ganglion cells is lower at 3 and 16 months of age

thin retina ganglion layer ( J:303304 , J:324291 )

• thickness of the retinal ganglion cells distributing layers is reduced at 16, but not 3, months of age, indicating loss of retinal ganglion cells (J:324291)

decreased total retina thickness ( J:324291 )

• retinal thickness is lower at 16 months of age

abnormal eye physiology ( J:324291 )

• optomotor response test after light adaptation shows that 16-month-old, but not 3-month-old, mice have decreased head movement times at frequencies of 0.05 cycle per degree (cpd), 0.1 cpd, and 0.2 cpd, indicating that mice have impaired ability to perceive brightness of light

• however, intraocular pressure is normal at 3 and 16 months of age and no differences in anterior chamber depth, anterior chamber width, and angle opening distance are seen

increased retina apoptosis ( J:303304 )

• increased degradation of retinal ganglion cells (RGCs) at age 16 months

• normal retinal ganglion cells (RGCs) stability at age 16 months after rapamycin treatment

abnormal visual evoked potential ( J:303304 , J:324291 )

• lower P2 amplitude in flash visual evoked potential (f-VEP) at age 16 months (J:303304)

• flash visual-evoked potentials show that P2-wave amplitude is lower in 16-month-old mice (J:324291)

abnormal vision ( J:303304 , J:324291 )

• reduced visual function at age 16 months (J:303304)

• normal visual function at age 16 months after rapamycin treatment (J:303304)

• 16-month-old mice show visual impairment as indicated by more time spent in the light environment of the light/dark transition test than wild-type mice, abnormal visual-evoked potential, and decreased head movement time in the optomotor response test (J:324291)

cellular

impaired autophagy ( J:303304 )

• TARDBP accumulation in retina at age 16 months

• normal levels of TARDBP in retina at age 16 months after rapamycin treatment

increased retina apoptosis ( J:303304 )

• increased degradation of retinal ganglion cells (RGCs) at age 16 months

• normal retinal ganglion cells (RGCs) stability at age 16 months after rapamycin treatment

nervous system

retina ganglion cell degeneration ( J:324291 )

• density of retinal ganglion cells is lower at 3 and 16 months of age

axon degeneration ( J:324291 )

• disruption of retinal ganglion cell axon fascicles is seen at 16, but not 3, months and axons in optic nerve show swollen mitochondria with cristae loss at 3 months and aggravated mitochondrial damage at 16 months, indicating axonal degeneration

abnormal axonal transport ( J:324291 )

• 16-month-old mice show impaired axonal transport in the optic nerve

homeostasis/metabolism

impaired autophagy ( J:303304 )

• TARDBP accumulation in retina at age 16 months

• normal levels of TARDBP in retina at age 16 months after rapamycin treatment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
low tension glaucoma		DOID:13544		J:303304 , J:324291

Genotype
MGI:7531850

ht2

• Allelic Composition: Optn^em1Hyua/Optn⁺
• Genetic Background: C57BL/6J-Optn^em1Hyua

behavior/neurological

impaired coordination ( J:303304 )

• shorter latency to fall in rotarod test at age 24 months

• normal latency to fall in rotarod test at age 16 months