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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Abca4tm1Ght
targeted mutation 1, Gabriel H Travis
MGI:1857860
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Abca4tm1Ght/Abca4tm1Ght involves: 129S4/SvJae MGI:3697458
hm2
Abca4tm1Ght/Abca4tm1Ght involves: 129S4/SvJae * BALB/c MGI:3820396
hm3
Abca4tm1Ght/Abca4tm1Ght involves: 129S4/SvJae * C57BL/6 MGI:2653823
cx4
Abca4tm1Ght/Abca4tm1Ght
Rdh8tm1Kpal/Rdh8tm1Kpal
involves: 129S4/SvJae MGI:4410294


Genotype
MGI:3697458
hm1
Allelic
Composition
Abca4tm1Ght/Abca4tm1Ght
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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 (J:141801)
• 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 (J:141801)
• A2E fluorescent product (from condensation of all-trans-retinal) is detected at much higher levels than in wild-type or Rdh12-deficient mice (J:117483)
• A2E fluorescent product (from condensation of all-trans-retinal) is detected at much higher levels than in wild-type or Rdh12-deficient mice (J:117483)

homeostasis/metabolism
• mice supplemented with vitamin A accumulate more higher levels of all-trans retinoic acid in both the liver and eyes (J:141801)
• mice supplemented with vitamin A accumulate more higher levels of all-trans retinoic acid in both the liver and eyes (J:141801)

pigmentation
• 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 (J:141801)
• 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 (J:141801)




Genotype
MGI:3820396
hm2
Allelic
Composition
Abca4tm1Ght/Abca4tm1Ght
Genetic
Background
involves: 129S4/SvJae * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca4tm1Ght mutation (1 available); any Abca4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• the outer segment is approximately 40% degenerated with OS shortening by 11 months of age (J:141801)
• the outer segment is approximately 40% degenerated with OS shortening by 11 months of age (J:141801)
• 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 (J:141801)
• 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 (J:141801)
• 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 (J:141801)
• 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 (J:141801)
• the outer nuclear layer of 11-month old albinos contains 6 to 7 rows compared to 10 to 11 rows for controls (J:141801)
• the outer nuclear layer of 11-month old albinos contains 6 to 7 rows compared to 10 to 11 rows for controls (J:141801)

pigmentation
• 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 (J:141801)
• 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 (J:141801)
• 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 (J:141801)
• 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 (J:141801)

nervous system
• the outer segment is approximately 40% degenerated with OS shortening by 11 months of age (J:141801)
• the outer segment is approximately 40% degenerated with OS shortening by 11 months of age (J:141801)




Genotype
MGI:2653823
hm3
Allelic
Composition
Abca4tm1Ght/Abca4tm1Ght
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca4tm1Ght mutation (1 available); any Abca4 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mutants exhibit a 1.6-fold increase in phosphatidyletanolamine in the outer segments of retinal pigment epithelium (J:56317)
• mutants exhibit the presence of protonated and absence of nonprotonated N-retinylidene-phosphatidylethanolamine in outer segments (J:56317)
• mutants exhibit a 1.6-fold increase in phosphatidyletanolamine in the outer segments of retinal pigment epithelium (J:56317)
• mutants exhibit the presence of protonated and absence of nonprotonated N-retinylidene-phosphatidylethanolamine in outer segments (J:56317)
• mutants show a 35% mean reduction in a-wave amplitude up to 1 year of age, suggesting a slow photoreceptor degeneration (J:56317)
• mutants show a 35% mean reduction in a-wave amplitude up to 1 year of age, suggesting a slow photoreceptor degeneration (J:56317)
• 16 and 20 week old mutants exhibit lipofuscin accumulation in the retinal pigment epithelium (J:56317)
• 44 week old eyes show accumulation of dense bodies within retinal pigment epithelium cells, including large oval structures of high electron density (J:56317)
• 16 and 20 week old mutants exhibit lipofuscin accumulation in the retinal pigment epithelium (J:56317)
• 44 week old eyes show accumulation of dense bodies within retinal pigment epithelium cells, including large oval structures of high electron density (J:56317)
• Bruch's membrane between the retinal pigment epithelium and choroid is thickened (J:56317)
• Bruch's membrane between the retinal pigment epithelium and choroid is thickened (J:56317)
• mutants exhibit a transient accumulation of all-trans- retinaldehyde and transient depletion of all-trans-retinol and all-trans-retinyl esters following photobleach (J:56317)
• mutants exhibit a transient accumulation of all-trans- retinaldehyde and transient depletion of all-trans-retinol and all-trans-retinyl esters following photobleach (J:56317)

nervous system
• mutants exhibit a 1.6-fold increase in phosphatidyletanolamine in the outer segments of retinal pigment epithelium (J:56317)
• mutants exhibit the presence of protonated and absence of nonprotonated N-retinylidene-phosphatidylethanolamine in outer segments (J:56317)
• mutants exhibit a 1.6-fold increase in phosphatidyletanolamine in the outer segments of retinal pigment epithelium (J:56317)
• mutants exhibit the presence of protonated and absence of nonprotonated N-retinylidene-phosphatidylethanolamine in outer segments (J:56317)
• mutants show a 35% mean reduction in a-wave amplitude up to 1 year of age, suggesting a slow photoreceptor degeneration (J:56317)
• mutants show a 35% mean reduction in a-wave amplitude up to 1 year of age, suggesting a slow photoreceptor degeneration (J:56317)

pigmentation
• 16 and 20 week old mutants exhibit lipofuscin accumulation in the retinal pigment epithelium (J:56317)
• 44 week old eyes show accumulation of dense bodies within retinal pigment epithelium cells, including large oval structures of high electron density (J:56317)
• 16 and 20 week old mutants exhibit lipofuscin accumulation in the retinal pigment epithelium (J:56317)
• 44 week old eyes show accumulation of dense bodies within retinal pigment epithelium cells, including large oval structures of high electron density (J:56317)

Mouse Models of Human Disease
OMIM ID Ref(s)
Stargardt Disease 1; STGD1 248200 J:56317




Genotype
MGI:4410294
cx4
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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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory