Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca4tm1Ght mutation
(3 available);
any
Abca4 mutation
(107 available)
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vision/eye
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• levels of lipofuscin and its associated metabolites are 20-fold higher than in controls in the retinal pigment epithelium of mice supplemented with vitamin A
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• A2E fluorescent product (from condensation of all-trans-retinal) is detected at much higher levels than in wild-type or Rdh12-deficient mice
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homeostasis/metabolism
pigmentation
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• levels of lipofuscin and its associated metabolites are 20-fold higher than in controls in the retinal pigment epithelium of mice supplemented with vitamin A
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca4tm1Ght mutation
(3 available);
any
Abca4 mutation
(107 available)
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vision/eye
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• the outer segment is approximately 40% degenerated with OS shortening by 11 months of age
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• levels of lipofuscin and its associated metabolites are higher than in controls in the retinal pigment epithelium of mice, especially when diet is supplemented with vitamin A
• the fractional area of lipofuscin granules in the RPE is 0.11 and reaches 0.14 when supplemented with vitamin A as compared to 0.053 in albino controls fed a control diet
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• the outer nuclear layer of 11-month old albinos contains 6 to 7 rows compared to 10 to 11 rows for controls
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pigmentation
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• levels of lipofuscin and its associated metabolites are higher than in controls in the retinal pigment epithelium of mice, especially when diet is supplemented with vitamin A
• the fractional area of lipofuscin granules in the RPE is 0.11 and reaches 0.14 when supplemented with vitamin A as compared to 0.053 in albino controls fed a control diet
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nervous system
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• the outer segment is approximately 40% degenerated with OS shortening by 11 months of age
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca4tm1Ght mutation
(3 available);
any
Abca4 mutation
(107 available)
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vision/eye
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• mutants exhibit a 1.6-fold increase in phosphatidyletanolamine in the outer segments of retinal pigment epithelium
• mutants exhibit the presence of protonated and absence of nonprotonated N-retinylidene-phosphatidylethanolamine in outer segments
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• mutants show a 35% mean reduction in a-wave amplitude up to 1 year of age, suggesting a slow photoreceptor degeneration
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• 16 and 20 week old mutants exhibit lipofuscin accumulation in the retinal pigment epithelium
• 44 week old eyes show accumulation of dense bodies within retinal pigment epithelium cells, including large oval structures of high electron density
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• Bruch's membrane between the retinal pigment epithelium and choroid is thickened
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• mutants exhibit a transient accumulation of all-trans- retinaldehyde and transient depletion of all-trans-retinol and all-trans-retinyl esters following photobleach
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nervous system
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• mutants exhibit a 1.6-fold increase in phosphatidyletanolamine in the outer segments of retinal pigment epithelium
• mutants exhibit the presence of protonated and absence of nonprotonated N-retinylidene-phosphatidylethanolamine in outer segments
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• mutants show a 35% mean reduction in a-wave amplitude up to 1 year of age, suggesting a slow photoreceptor degeneration
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pigmentation
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• 16 and 20 week old mutants exhibit lipofuscin accumulation in the retinal pigment epithelium
• 44 week old eyes show accumulation of dense bodies within retinal pigment epithelium cells, including large oval structures of high electron density
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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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Analysis Tools