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Phenotypes Associated with This Genotype
Genotype
MGI:6159288
Allelic
Composition
Abca4tm1.1Rsmy/Abca4tm1.1Rsmy
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abca4tm1.1Rsmy mutation (0 available); any Abca4 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• 6 month old mice show increased autofluorescence in retinal pigment cells (RPE) indicating accumulation of lipofuscin deposits in RPE cells
• however, no photoreceptor degeneration is seen to occur over 2 months, with mice showing normal outer nuclear layer thickness

vision/eye
• 6 month old mice show increased autofluorescence in retinal pigment cells (RPE) indicating accumulation of lipofuscin deposits in RPE cells
• however, no photoreceptor degeneration is seen to occur over 2 months, with mice showing normal outer nuclear layer thickness
• 6 month old mice show a 10-fold increase in bis-retinoid A2E levels in retinal pigment cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Stargardt disease DOID:0050817 OMIM:248200
OMIM:600110
OMIM:603786
J:255529


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
06/23/2020
MGI 6.15
The Jackson Laboratory