Phenotypes associated with this allele
Allelic Composition |
Rdh8tm1Kpal/Rdh8tm1Kpal
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Genetic Background |
either: (involves: 129 * BALB/c) or (involves: 129 * C57BL/6J) |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rdh8tm1Kpal mutation
(2 available);
any
Rdh8 mutation
(20 available)
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vision/eye
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• following bleaching the recovery time of rods is significantly increased; however the initial extent of bleaching is similar to wild-type
• the rate at which all-trans-retinal is reduced to all-trans-retinol is slower
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca4tm1Kpal mutation
(0 available);
any
Abca4 mutation
(107 available)
Rdh8tm1Kpal mutation
(2 available);
any
Rdh8 mutation
(20 available)
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vision/eye
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• the eyecups of 6 month old mice contain the fluorescent by-product of retinal metabolism lipofusin pdA2E
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vision/eye
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• choroidal neovascularization in 22.2% (2/9) of the eyes
• no choroidal neovascularization in the eyes of sirolimus-treated mice
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• reduced number of photoreceptor nuclei along the inferior retinal regions and severe retinal degeneration at 5 months and 10 months of age, respectively
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• reduced number of cone photoreceptors
• retinylamine treatment largely preserve cone photoreceptors
• antioxidant, 9cRAc, and sirolimus treatment preserve cone photoreceptors, but not as well as retinylamine
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• swollen retinal pigment epithelium (RPE) with increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age
• disrupted inner membrane cristae in RPE cells at 5 months of age
• dead RPE cells lacking mitochondrial inner membrane cristae at 10 months of age
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• increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age
• di-retinoidpyridinium-ethanolamine (A2E) accumulation
• retinylamine significantly decreased A2E accumulation
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• severely reduced outer nuclear layer
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• early retinal degeneration is detected by 6 to 8 weeks of age in mice kept in dim room light (3-5 lux)
• reduced lengths of photoreceptor outer segments (less than 5 micrometers)
• antioxidant, 9cRAc, retinylamine and sirolimus treatment have efficacy in preventing retinal degeneration
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• hyaline-like deposits in the rosette structure in 3- to 5-month-old mutant mice
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• complement deposition on Bruch's membrane
• reduced complement deposition in antioxidant, 9cRAc, and sirolimus-treated mice
• no complement deposition in retinylamine-treated mice
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• reduced a- and b-wave amplitudes
• both a- and b-wave amplitudes are maintained significantly better in antioxidant, 9cRAc, retinylamine and sirolimus-treated mice
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• reduced Flicker ERG responses
• responses of some antioxidant- and 9cRAc-treated mice are significantly retained after both 20- and 30-Hz stimuli
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nervous system
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• reduced number of photoreceptor nuclei along the inferior retinal regions and severe retinal degeneration at 5 months and 10 months of age, respectively
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• reduced number of cone photoreceptors
• retinylamine treatment largely preserve cone photoreceptors
• antioxidant, 9cRAc, and sirolimus treatment preserve cone photoreceptors, but not as well as retinylamine
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pigmentation
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• swollen retinal pigment epithelium (RPE) with increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age
• disrupted inner membrane cristae in RPE cells at 5 months of age
• dead RPE cells lacking mitochondrial inner membrane cristae at 10 months of age
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• increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age
• di-retinoidpyridinium-ethanolamine (A2E) accumulation
• retinylamine significantly decreased A2E accumulation
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cardiovascular system
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• choroidal neovascularization in 22.2% (2/9) of the eyes
• no choroidal neovascularization in the eyes of sirolimus-treated mice
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