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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 (2 available); any Abca4 mutation (35 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
• A2E fluorescent product (from condensation of all-trans-retinal) is detected at much higher levels than in wild-type or Rdh12-deficient mice

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

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




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 (2 available); any Abca4 mutation (35 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
• 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
• the outer nuclear layer of 11-month old albinos contains 6 to 7 rows compared to 10 to 11 rows for controls

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
• 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

nervous system
• the outer segment is approximately 40% degenerated with OS shortening by 11 months of age




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 (2 available); any Abca4 mutation (35 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
• mutants exhibit the presence of protonated and absence of nonprotonated N-retinylidene-phosphatidylethanolamine in outer segments
• mutants show a 35% mean reduction in a-wave amplitude up to 1 year of age, suggesting a slow photoreceptor degeneration
• 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
• Bruch's membrane between the retinal pigment epithelium and choroid is thickened
• mutants exhibit a transient accumulation of all-trans- retinaldehyde and transient depletion of all-trans-retinol and all-trans-retinyl esters following photobleach

nervous system
• 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
• mutants show a 35% mean reduction in a-wave amplitude up to 1 year of age, suggesting a slow photoreceptor degeneration

pigmentation
• 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

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 (2 available); any Abca4 mutation (35 available)
Rdh8tm1Kpal mutation (0 available); any Rdh8 mutation (3 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
• no Choroidal Neovascularization (CNV) in the eyes of sirolimus-treated mice
• reduced number of photoreceptor nuclei along the inferior retinal regions and severe retinal degeneration at 5 months and 10 months of age, respectively
• 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
• 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
• 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
• severely reduced outer nuclear layer
• 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
• hyaline-like deposits in the rosette structure in 3- to 5-month-old mutant mice
• complement deposition on Bruch's membrane
• reduced complement deposition in antioxidant, 9cRAc, and sirolimus-treated mice
• no complement deposition in retinylamine-treated mice
• reduced a- and b-wave amplitudes
• both a- and b-wave amplitudes are maintained significantly better in antioxidant, 9cRAc, retinylamine and sirolimus-treated mice
• reduced Flicker ERG responses
• responses of some antioxidant- and 9cRAc-treated mice are significantly retained after both 20- and 30-Hz stimuli

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
• 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

pigmentation
• 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
• 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

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

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
08/17/2016
MGI 6.05
The Jackson Laboratory