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Phenotypes Associated with This Genotype
Genotype
MGI:4410294
Allelic
Composition
Abca4tm1Ght/Abca4tm1Ght
Rdh8tm1Kpal/Rdh8tm1Kpal
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca4tm1Ght mutation (1 available); any Abca4 mutation (5 available)
Rdh8tm1Kpal mutation (0 available); any Rdh8 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• Choroidal Neovascularization (CNV) in 22.2% (2/9) of the eyes (J:154536)
• no Choroidal Neovascularization (CNV) in the eyes of sirolimus-treated mice (J:154536)
• Choroidal Neovascularization (CNV) in 22.2% (2/9) of the eyes (J:154536)
• no Choroidal Neovascularization (CNV) in the eyes of sirolimus-treated mice (J:154536)
• reduced number of photoreceptor nuclei along the inferior retinal regions and severe retinal degeneration at 5 months and 10 months of age, respectively (J:154536)
• reduced number of photoreceptor nuclei along the inferior retinal regions and severe retinal degeneration at 5 months and 10 months of age, respectively (J:154536)
• reduced number of cone photoreceptors (J:154536)
• retinylamine treatment largely preserve cone photoreceptors (J:154536)
• antioxidant, 9cRAc, and sirolimus treatment preserve cone photoreceptors, but not as well as retinylamine (J:154536)
• reduced number of cone photoreceptors (J:154536)
• retinylamine treatment largely preserve cone photoreceptors (J:154536)
• antioxidant, 9cRAc, and sirolimus treatment preserve cone photoreceptors, but not as well as retinylamine (J:154536)
• swollen retinal pigment epithelium (RPE) with increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age (J:154536)
• disrupted inner membrane cristae in RPE cells at 5 months of age (J:154536)
• dead RPE cells lacking mitochondrial inner membrane cristae at 10 months of age (J:154536)
• swollen retinal pigment epithelium (RPE) with increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age (J:154536)
• disrupted inner membrane cristae in RPE cells at 5 months of age (J:154536)
• dead RPE cells lacking mitochondrial inner membrane cristae at 10 months of age (J:154536)
• increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age (J:154536)
• di-retinoidpyridinium-ethanolamine (A2E) accumulation (J:154536)
• retinylamine significantly decreased A2E accumulation (J:154536)
• increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age (J:154536)
• di-retinoidpyridinium-ethanolamine (A2E) accumulation (J:154536)
• retinylamine significantly decreased A2E accumulation (J:154536)
• severely reduced outer nuclear layer (J:154536)
• severely reduced outer nuclear layer (J:154536)
• early retinal degeneration is detected by 6 to 8 weeks of age in mice kept in dim room light (3-5 lux) (J:154536)
• reduced lengths of photoreceptor outer segments (less than 5 micrometers) (J:154536)
• antioxidant, 9cRAc, retinylamine and sirolimus treatment have efficacy in preventing retinal degeneration (J:154536)
• early retinal degeneration is detected by 6 to 8 weeks of age in mice kept in dim room light (3-5 lux) (J:154536)
• reduced lengths of photoreceptor outer segments (less than 5 micrometers) (J:154536)
• antioxidant, 9cRAc, retinylamine and sirolimus treatment have efficacy in preventing retinal degeneration (J:154536)
• hyaline-like deposits in the rosette structure in 3- to 5-month-old mutant mice (J:154536)
• hyaline-like deposits in the rosette structure in 3- to 5-month-old mutant mice (J:154536)
• complement deposition on Bruch's membrane (J:154536)
• reduced complement deposition in antioxidant, 9cRAc, and sirolimus-treated mice (J:154536)
• no complement deposition in retinylamine-treated mice (J:154536)
• complement deposition on Bruch's membrane (J:154536)
• reduced complement deposition in antioxidant, 9cRAc, and sirolimus-treated mice (J:154536)
• no complement deposition in retinylamine-treated mice (J:154536)
• reduced a- and b-wave amplitudes (J:154536)
• both a- and b-wave amplitudes are maintained significantly better in antioxidant, 9cRAc, retinylamine and sirolimus-treated mice (J:154536)
• reduced a- and b-wave amplitudes (J:154536)
• both a- and b-wave amplitudes are maintained significantly better in antioxidant, 9cRAc, retinylamine and sirolimus-treated mice (J:154536)
• reduced Flicker ERG responses (J:154536)
• responses of some antioxidant- and 9cRAc-treated mice are significantly retained after both 20- and 30-Hz stimuli (J:154536)
• reduced Flicker ERG responses (J:154536)
• responses of some antioxidant- and 9cRAc-treated mice are significantly retained after both 20- and 30-Hz stimuli (J:154536)

nervous system
• reduced number of photoreceptor nuclei along the inferior retinal regions and severe retinal degeneration at 5 months and 10 months of age, respectively (J:154536)
• reduced number of photoreceptor nuclei along the inferior retinal regions and severe retinal degeneration at 5 months and 10 months of age, respectively (J:154536)
• reduced number of cone photoreceptors (J:154536)
• retinylamine treatment largely preserve cone photoreceptors (J:154536)
• antioxidant, 9cRAc, and sirolimus treatment preserve cone photoreceptors, but not as well as retinylamine (J:154536)
• reduced number of cone photoreceptors (J:154536)
• retinylamine treatment largely preserve cone photoreceptors (J:154536)
• antioxidant, 9cRAc, and sirolimus treatment preserve cone photoreceptors, but not as well as retinylamine (J:154536)

pigmentation
• swollen retinal pigment epithelium (RPE) with increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age (J:154536)
• disrupted inner membrane cristae in RPE cells at 5 months of age (J:154536)
• dead RPE cells lacking mitochondrial inner membrane cristae at 10 months of age (J:154536)
• swollen retinal pigment epithelium (RPE) with increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age (J:154536)
• disrupted inner membrane cristae in RPE cells at 5 months of age (J:154536)
• dead RPE cells lacking mitochondrial inner membrane cristae at 10 months of age (J:154536)
• increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age (J:154536)
• di-retinoidpyridinium-ethanolamine (A2E) accumulation (J:154536)
• retinylamine significantly decreased A2E accumulation (J:154536)
• increased pigmented granules that included lipofuscin in mice kept in room light at 5 months of age (J:154536)
• di-retinoidpyridinium-ethanolamine (A2E) accumulation (J:154536)
• retinylamine significantly decreased A2E accumulation (J:154536)

cardiovascular system
• Choroidal Neovascularization (CNV) in 22.2% (2/9) of the eyes (J:154536)
• no Choroidal Neovascularization (CNV) in the eyes of sirolimus-treated mice (J:154536)
• Choroidal Neovascularization (CNV) in 22.2% (2/9) of the eyes (J:154536)
• no Choroidal Neovascularization (CNV) in the eyes of sirolimus-treated mice (J:154536)

Mouse Models of Human Disease
OMIM ID Ref(s)
Macular Degeneration, Age-Related, 2; ARMD2 153800 J:154536


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory