vision/eye
• attenuated retinal blood vessels are observed in photographs of the fundus at postnatal day (P) 21
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• examination of the retinal ultrastructure by transmission electron microscopy (TEM) reveals short outer segments with disorganized discs at P21
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• unevenly distributed pigment patches are observed in photographs of the fundus at P21
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• immunohistochemical analysis at P14 reveals the mutant rhodopsin protein accumulating in the photoreceptor inner segments and/or cell bodies instead of trafficking to the photoreceptor outer segments
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• the outer nuclear layer (ONL) of the retina is reduced by 50% by P18 and consists of only two rows of nuclei by P35
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• rapidly progressive
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• whole field scotopic electroretinography at P21 demonstrates severely reduced photoreceptor cell function: both a- and b-waves are severely attenuated, the a-wave amplitude reduced to approximately one-third that of wild-type mice
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cardiovascular system
• attenuated retinal blood vessels are observed in photographs of the fundus at postnatal day (P) 21
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pigmentation
• unevenly distributed pigment patches are observed in photographs of the fundus at P21
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nervous system
• examination of the retinal ultrastructure by transmission electron microscopy (TEM) reveals short outer segments with disorganized discs at P21
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
retinitis pigmentosa 4 | DOID:0110372 |
OMIM:613731 |
J:153281 |