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Phenotypes Associated with This Genotype
Genotype
MGI:3771021
Allelic
Composition
Efemp1tm1Lmar/Efemp1+
Genetic
Background
involves: 129X1/SvJ * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Efemp1tm1Lmar mutation (0 available); any Efemp1 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• degeneration of chorcapillaries is evident in mice by 18 months of age, leaving behind rings of basement membrane
• small deposits of basement membrane material occur between the plasma membrane and the basement membrane of the RPE starting at 4 months of age
• deposits are larger and more frequent at 8 months of age
• deposits merge into large patches by 12 months of age and continuous sheets by 23 months of age
• basal infoldings are lost in areas adjacent to deposits
• the RPE loses its uniformity and becomes highly vacuolated when over 18 months of age
• is observed in some mice 18 months of age or older
• debris containing membrane coated vesicles appear in a diffuse manner within the Bruch's membrane by 12 months of age
• further collection of debris along with thickening of the membrane and invasion by cellular processes occurs to the membrane by 18 months of age

pigmentation
• small deposits of basement membrane material occur between the plasma membrane and the basement membrane of the RPE starting at 4 months of age
• deposits are larger and more frequent at 8 months of age
• deposits merge into large patches by 12 months of age and continuous sheets by 23 months of age
• basal infoldings are lost in areas adjacent to deposits
• the RPE loses its uniformity and becomes highly vacuolated when over 18 months of age

cardiovascular system
• degeneration of chorcapillaries is evident in mice by 18 months of age, leaving behind rings of basement membrane

Mouse Models of Human Disease
OMIM ID Ref(s)
Doyne Honeycomb Retinal Dystrophy; DHRD 126600 J:129902


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
11/29/2016
MGI 6.06
The Jackson Laboratory