cellular
|
• separation of inner membranes in optical nerve axons
|
|
• loss of cristae in optical nerve axons
|
|
• greater quantity of spherical and less variable mitochondria in optic nerve at age 360 days
• vacuolation in optical nerve axons
• disrupted mitochondria in retinal ganglion cell soma
|
|
• increase in copy number in retinal tissues
|
|
• accumulation of mitophagosomes in retinal ganglion cell soma
|
growth/size/body
|
• at age 180 days
|
nervous system
|
• greater quantity of spherical and less variable mitochondria in optic nerve at age 360 days
• vacuolation in optical nerve axons
• disrupted mitochondria in retinal ganglion cell soma
|
|
• increase in copy number in retinal tissues
|
|
• at age 180 days, continuing decline up to age 420 days
|
|
• at ages 50 and 360 days
|
|
• reduced number of myelinated axons in optic nerve at ages 50 and 360 days
• loose myelin sheath around axons in optic nerve at ages 50 and 360 days
|
skeleton
vision/eye
|
• at age 180 days, continuing decline up to age 420 days
|
|
• at ages 50 and 360 days
|
|
• at age 90 days
|
|
• lower amplitude between peak positive waves (P1) and lowest negative waves (N2) in pattern ERG response at age 180 days, continuing decline up to age 630 days
• lower amplitude of photopic negative response at age 180 days
• normal a- and b-wave amplitudes in photopic ERG response at age 360 days
|
|
• lower amplitude between peak positive waves (P1) and lowest negative waves (N2) in pattern ERG response at age 180 days, continuing decline up to age 630 days
• lower amplitude of scotopic negative response at age 180 days
• normal a- and b-wave amplitudes in scotopic ERG response at age 360 days
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| optic atrophy 1 | DOID:0111441 |
OMIM:165500 |
J:381209 | |


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