vision/eye
• rod bipolar cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer, in some cases, dendrites reach the retinal pigment epithelium
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• ON-center cells exhibit reduced spontaneous activity to a photopic adapting stimulus as compared to wild-type
• ON-center cells have a reduced dynamic range, although basic center-surround organization is retained
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• horizontal cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer reaching the retinal pigment epithelium
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• bipolar and horizontal cells extend ectopic processes into the outer nuclear layer
• small, diffuse punctate staining is observed in the outer nuclear layer using the presynaptic ribbon marker, Ribeye
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• in adult mice OPL is disorganized, however, other retinal layers appear normal
• horseshoe shaped structures visualized by immunolabeling using the presynaptic ribbon marker, Ribeye, are missing in mutants and are replaced by small, diffuse punctate staining
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• light adapted ERGs are reduced in amplitude and have slower kinetics as compared to control
• implicit time of the b-wave is delayed
• cone ERG amplitude has a distinctive waveform as compared to control
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• b-wave is markedly reduced through out the stimulus range in dark-adapted electroretinograms (ERG) in adult mice
• implicit time of the b-wave is delayed
• a-waves (between -1.2 and 0.0 log cd s/m2) are larger as compared to control, however, maximum a-wave amplitude does not differ from control
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nervous system
• rod bipolar cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer, in some cases, dendrites reach the retinal pigment epithelium
|
• ON-center cells exhibit reduced spontaneous activity to a photopic adapting stimulus as compared to wild-type
• ON-center cells have a reduced dynamic range, although basic center-surround organization is retained
|
• horizontal cell dendrites extend beyond the outer plexiform layer into the outer nuclear layer reaching the retinal pigment epithelium
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
congenital stationary night blindness 2A | DOID:0110871 |
OMIM:300071 |
J:123811 |