vision/eye
• The a-wave is normal, but the scotopic b-wave is reduced although not abolished, with prominant high frequency oscillatory potentials, and the photopic b-wave is reduced nearly to the levels caused by null alleles. This point mutation causes the protein to have decreased glycosylation and mislocalization to the retinal bipolar cell soma instead of the dendritic tips.
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
congenital stationary night blindness 1B | DOID:0110865 |
OMIM:257270 |
J:240996 |