Mouse Genome Informatics
hm1
    Efemp1tm1Lmar/Efemp1tm1Lmar
involves: 129X1/SvJ * BALB/c
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Doyne Honeycomb Retinal Dystrophy; DHRD 126600 J:129902


Mouse Genome Informatics
ht2
    Efemp1tm1Lmar/Efemp1+
involves: 129X1/SvJ * BALB/c
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Doyne Honeycomb Retinal Dystrophy; DHRD 126600 J:129902