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Phenotypes Associated with This Genotype
Genotype
MGI:3800793
Allelic
Composition
Efemp1tm1Eap/Efemp1tm1Eap
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efemp1tm1Eap mutation (0 available); any Efemp1 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• homozygotes develop deposits of material between Bruch's membrane and the retinal pigment epithelium by 12 months of age, which resemble basal deposits in individuals with age-related macular degeneration
• extensive vacuolization and loss of basolateral infoldings

pigmentation
• extensive vacuolization and loss of basolateral infoldings

Mouse Models of Human Disease
OMIM ID Ref(s)
Doyne Honeycomb Retinal Dystrophy; DHRD 126600 J:129901


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
09/27/2016
MGI 6.05
The Jackson Laboratory