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
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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
• some embryos
|
growth/size/body
• some embryos
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
optic atrophy | DOID:5723 |
OMIM:PS165500 |
J:121779 , J:189276 |