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Phenotypes Associated with This Genotype
Genotype
MGI:3711534
Allelic
Composition
Elovl4tm1Wked/Elovl4+
Genetic
Background
involves: 129S/SvEv * 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elovl4tm1Wked mutation (0 available); any Elovl4 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• at 9 months of age there is an abnormal accumulation of the lipofuscin component N-retinylidene-N-retinylethanolamine (A2E) precursors (87% more A2PE-H and 31% more A2PE) (J:121481)
• at 9 months of age there is an abnormal accumulation of the lipofuscin component N-retinylidene-N-retinylethanolamine (A2E) precursors (87% more A2PE-H and 31% more A2PE) (J:121481)
• at 8 months of age, mice a reduced rod amplitude (100+/-19 compared to 164+/-33 in wild-type) (J:121481)
• at 8 months of age, mice a reduced rod amplitude (100+/-19 compared to 164+/-33 in wild-type) (J:121481)
• reduced vision (J:121481)
• reduced vision (J:121481)

pigmentation
• at 9 months of age there is an abnormal accumulation of the lipofuscin component N-retinylidene-N-retinylethanolamine (A2E) precursors (87% more A2PE-H and 31% more A2PE) (J:121481)
• at 9 months of age there is an abnormal accumulation of the lipofuscin component N-retinylidene-N-retinylethanolamine (A2E) precursors (87% more A2PE-H and 31% more A2PE) (J:121481)

Mouse Models of Human Disease
OMIM ID Ref(s)
Stargardt Disease 3; STGD3 600110 J:121481


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory