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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)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory