Analysis Tools
vision/eye
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• accumulation of autofluorescent material in the fundus is seen at postnatal week 4
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• retinal vascular bed density is altered
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• retina shows a thinner appearance of the large blood vessels
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• retina shows early shortening of the inner segment of the photoreceptor layers
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• retina shows early shortening of the outer segment of the photoreceptor layers, with compromised rod outer segment morphology already at postnatal week 1
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• cone morphology appears normal at postnatal week 1, but a gradual loss of outer segments of the cone is seen by postnatal week 9 and complete loss of cones is seen at postnatal week 12
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• an initial 15-20% loss of the outer segment and the outer nuclear layer at postnatal weeks 2, 3, and 4, loss of half of the outer segment and outer nuclear layer between postnatal week 5 and 6, and then slower degeneration after postnatal week 7, with almost complete loss of the outer segment and outer nuclear layer at postnatal week 12 with only the inner nuclear and ganglion cell layers remaining
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• appearance of the inner nuclear layer nuclei starts to be more scattered at postnatal week 12
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• thinning of the outer nuclear layer that is seen at postnatal week 4 and is progressive over time
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• mice exhibit rod degeneration and secondary degeneration of non-rod cells
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• ERG indicates a lack of rod photoreceptor-driven responses as early as postnatal week 3 and a secondary, slowly progressive loss of cone-mediated light responses, leading to complete blindness after postnatal week 9
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• no rod-derived a-wave is detected by electroretinogram (ERG)
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• the ERG b-wave is absent after stimulation with rod-specific low luminance and is decreased strongly at higher luminance
• from postnatal week 9, mice no longer respond to light stimuli, with no ERG response even at the highest luminance
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nervous system
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• retina shows early shortening of the inner segment of the photoreceptor layers
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• retina shows early shortening of the outer segment of the photoreceptor layers, with compromised rod outer segment morphology already at postnatal week 1
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• cone morphology appears normal at postnatal week 1, but a gradual loss of outer segments of the cone is seen by postnatal week 9 and complete loss of cones is seen at postnatal week 12
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• an initial 15-20% loss of the outer segment and the outer nuclear layer at postnatal weeks 2, 3, and 4, loss of half of the outer segment and outer nuclear layer between postnatal week 5 and 6, and then slower degeneration after postnatal week 7, with almost complete loss of the outer segment and outer nuclear layer at postnatal week 12 with only the inner nuclear and ganglion cell layers remaining
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cardiovascular system
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• retinal vascular bed density is altered
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• retina shows a thinner appearance of the large blood vessels
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinitis pigmentosa 49 | DOID:0110377 |
OMIM:613756 |
J:333119 | |
