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Phenotypes Associated with This Genotype
Genotype
MGI:2653823
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 (3 available); any Abca4 mutation (7 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
DO ID OMIM ID(s) Ref(s)
Stargardt disease DOID:0050817 OMIM:248200
OMIM:600110
OMIM:603786
J:56317


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory