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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Efemp1tm1Lmar
targeted mutation 1, Lihua Y Marmorstein
MGI:3770755
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Efemp1tm1Lmar/Efemp1tm1Lmar involves: 129X1/SvJ * BALB/c MGI:3771020
ht2
Efemp1tm1Lmar/Efemp1+ involves: 129X1/SvJ * BALB/c MGI:3771021


Genotype
MGI:3771020
hm1
Allelic
Composition
Efemp1tm1Lmar/Efemp1tm1Lmar
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
DO ID OMIM ID(s) Ref(s)
Doyne honeycomb retinal dystrophy DOID:0060745 OMIM:126600
J:129902




Genotype
MGI:3771021
ht2
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
DO ID OMIM ID(s) Ref(s)
Doyne honeycomb retinal dystrophy DOID:0060745 OMIM:126600
J:129902





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last database update
04/18/2017
MGI 6.08
The Jackson Laboratory