Analysis Tools
vision/eye
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• at 3 weeks of age, connecting cilia (CC) appear intact but lack a connection to the OS
• some CCs appear to have broken off from their IS whereas others remain attached to these structures
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• IHC analysis revealed significant rhodopsin staining in the inner segment (IS), suggesting deficient transport of proteins to the OS
• at 3 weeks of age, packets of IS containing mitochondria are found immediately adjacent to the RPE cell layer at a significant distance from their normal location
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• significantly shorter OS region at 3 weeks of age
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• highly disorganized outer segments as early as 3 weeks of age
• whirls of disc membranes are found in membranous structures surrounded by what appears to be plasma membranes
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• nearly complete loss of OS by 24 weeks of age, when the OS is only two nuclei thick
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• IHC analysis revealed reduced OPN1SW staining consistent with degeneration of cone OS
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• at 3 weeks of age, RPE cells show massive accumulation of undigested material
• RPE cells appear to have either increased levels of pigmentation or contain large numbers of phagosomes with disc membrane material
• necrotic RPE cells are occasionally found by 8 weeks of age
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• 78% decline in 11-cis-retinal in dark-adapted homozygotes relative to wild-type controls
• only 16% of retinal pigment detected at 3 weeks of age
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• IHC analysis revealed significant rhodopsin staining in the ONL, suggesting deficient transport of proteins to the OS
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• outer nuclear layer (ONL) thickness is reduced by ~25% as early as 4 weeks of age
• ONL thickness is rapidly and severely reduced with increasing age
• by 24 weeks, the ONL is only two nuclei thick
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• rapid degeneration of the ONL after 4 weeks, with 42% and 81% lost by 8 and 24 weeks of age, respectively
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• early-onset and rapid retinal degeneration
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• infiltration of the outer retina by activated microglia as early as 3 weeks of age, with increasing numbers at later time points
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• only 4 week old homozygotes exhibit detectable a-waves at the highest stimulus intensities
• by 8 weeks of age, ERG responses to increasing intensities of light are virtually flat, unlike in wild-type controls
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• amplitudes of both rod photoreceptor cell-evoked scotopic a-waves and cone photoreceptor cell-dependent photopic a-waves are reduced by 8 weeks of age
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• amplitudes of both rod photoreceptor cell-evoked scotopic b-waves and cone photoreceptor cell-dependent photopic b-waves are reduced by 8 weeks of age
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• reduced photopic responses at 4 and 8 weeks of age
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• reduced scotopic responses at 4 and 8 weeks of age
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nervous system
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• at 3 weeks of age, connecting cilia (CC) appear intact but lack a connection to the OS
• some CCs appear to have broken off from their IS whereas others remain attached to these structures
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• migration of activated microglial cells to the outer retina by 3 weeks of age, with pronounced activation at later time points
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• IHC analysis revealed significant rhodopsin staining in the inner segment (IS), suggesting deficient transport of proteins to the OS
• at 3 weeks of age, packets of IS containing mitochondria are found immediately adjacent to the RPE cell layer at a significant distance from their normal location
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• significantly shorter OS region at 3 weeks of age
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• highly disorganized outer segments as early as 3 weeks of age
• whirls of disc membranes are found in membranous structures surrounded by what appears to be plasma membranes
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• nearly complete loss of OS by 24 weeks of age, when the OS is only two nuclei thick
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• IHC analysis revealed reduced OPN1SW staining consistent with degeneration of cone OS
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pigmentation
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• at 3 weeks of age, RPE cells show massive accumulation of undigested material
• RPE cells appear to have either increased levels of pigmentation or contain large numbers of phagosomes with disc membrane material
• necrotic RPE cells are occasionally found by 8 weeks of age
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• 78% decline in 11-cis-retinal in dark-adapted homozygotes relative to wild-type controls
• only 16% of retinal pigment detected at 3 weeks of age
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immune system
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• migration of activated microglial cells to the outer retina by 3 weeks of age, with pronounced activation at later time points
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hematopoietic system
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• migration of activated microglial cells to the outer retina by 3 weeks of age, with pronounced activation at later time points
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cellular
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• at 3 weeks of age, connecting cilia (CC) appear intact but lack a connection to the OS
• some CCs appear to have broken off from their IS whereas others remain attached to these structures
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| retinitis pigmentosa 54 | DOID:0110364 |
OMIM:613428 |
J:220866 | |
