Phenotypes associated with this allele

• Allele Symbol: Efemp1^tm1Lmar
• Allele Name: targeted mutation 1, Lihua Y Marmorstein
• Allele ID: MGI:3770755
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Efemp1^tm1Lmar/Efemp1^tm1Lmar	involves: 129X1/SvJ * BALB/c	MGI:3771020
ht2	Efemp1^tm1Lmar/Efemp1^+	involves: 129X1/SvJ * BALB/c	MGI:3771021

Genotype
MGI:3771020

hm1

• Allelic Composition: Efemp1^tm1Lmar/Efemp1^tm1Lmar
• Genetic Background: involves: 129X1/SvJ * BALB/c

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal choriocapillaris morphology ( J:129902 )

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

abnormal retina pigment epithelium morphology ( J:129902 )

• 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

retina pigment epithelium atrophy ( J:129902 )

• basal infoldings are lost in areas adjacent to deposits

• the RPE loses its uniformity and becomes highly vacuolated when over 18 months of age

retina detachment ( J:129902 )

• is observed in some mice 18 months of age or older

abnormal Bruch membrane morphology ( J:129902 )

• 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

abnormal retina pigment epithelium morphology ( J:129902 )

• 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

retina pigment epithelium atrophy ( J:129902 )

• 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

abnormal choriocapillaris morphology ( J:129902 )

• 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: Efemp1^tm1Lmar/Efemp1⁺
• Genetic Background: involves: 129X1/SvJ * BALB/c

vision/eye

abnormal choriocapillaris morphology ( J:129902 )

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

abnormal retina pigment epithelium morphology ( J:129902 )

• 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

retina pigment epithelium atrophy ( J:129902 )

• basal infoldings are lost in areas adjacent to deposits

• the RPE loses its uniformity and becomes highly vacuolated when over 18 months of age

retina detachment ( J:129902 )

• is observed in some mice 18 months of age or older

abnormal Bruch membrane morphology ( J:129902 )

• 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

abnormal retina pigment epithelium morphology ( J:129902 )

• 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

retina pigment epithelium atrophy ( J:129902 )

• 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

abnormal choriocapillaris morphology ( J:129902 )

• 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