About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3712038
Allelic
Composition
Opa1Q285X/Opa1+
Genetic
Background
involves: C3HeB/FeJ * C57BL/6JCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Opa1Q285X mutation (0 available); any Opa1 mutation (56 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• mice are fertile

vision/eye
• at 18 months, the optic nerve has defects in myelin bundles and optic nerve fascicles appearing as gross whirls of myelin along the nerve
• however, mice have normal optic nerves and retinas at 6 months of age
• 11-13 month old mutants exhibit deficits in light-adapted visual responses; although the positive peak of the b-wave is similar to wild-type, the amplitude of the photopic negative response (immediately following negative deflection) is reduced at the two brightest intensities tested
• however, 11-13 month old mutants exhibit normal dark-adapted visual responses
• both rod and cone visual pathways remain in tact, however the differences in late evolving components of the light-adapted ERG and flash VEP responses that are seen indicate ganglion cell dysfunction
• 11-13 month old mutants exhibit deficits in light-adapted flash visually evoked potentials (VEPs), showing a normal negative N1 component but a reduction in the subsequent positive deflection (P2 wave) at the brightest intensity tested
• at 6 and 12 months, mice are not functionally totally blind
• at 12 months, mice track less well on all three gratings indicating a decrease in visual acuity
• at 12 months, mice exhibit increased nocturnal running when exposed to a light unlike wild-type mice indicating a reduction in vision

behavior/neurological
• at 6 months, when transferred into an arena mice exhibit transfer arousal, freezing in place for a longer period of time than controls, decreased locomotor activity and increased provoked biting response

cellular
• most mice display cells that have punctuated and completely dispersed mitochondria throughout the cytosol and nucleus, thereby giving cells a 'powdered' appearance

nervous system
• some embryos exhibit forebrain truncation
• at 18 months, the optic nerve has defects in myelin bundles and optic nerve fascicles appearing as gross whirls of myelin along the nerve
• however, mice have normal optic nerves and retinas at 6 months of age

embryo

growth/size/body

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
optic atrophy DOID:5723 OMIM:PS165500
J:121779 , J:189276


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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory