Phenotypes associated with this allele

• Allele Symbol: Efemp1^tm1Eap
• Allele Name: targeted mutation 1, Eric A Pierce
• Allele ID: MGI:3774265
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Efemp1^tm1Eap/Efemp1^tm1Eap	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:3800793
ht2	Efemp1^tm1Eap/Efemp1^+	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:3800794

Genotype
MGI:3800793

hm1

• Allelic Composition: Efemp1^tm1Eap/Efemp1^tm1Eap
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

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

vision/eye

abnormal eye morphology ( J:129901 )

• 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

abnormal retina pigment epithelium morphology ( J:129901 )

• extensive vacuolization and loss of basolateral infoldings

pigmentation

abnormal retina pigment epithelium morphology ( J:129901 )

• extensive vacuolization and loss of basolateral infoldings

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Doyne honeycomb retinal dystrophy		DOID:0060745	OMIM:126600	J:129901

Genotype
MGI:3800794

ht2

• Allelic Composition: Efemp1^tm1Eap/Efemp1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

vision/eye

abnormal eye morphology ( J:129901 )

• heterozygotes develop deposits of material between Bruch's membrane and the retinal pigment epithelium by 18 months of age, although they are smaller in size than in homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Doyne honeycomb retinal dystrophy		DOID:0060745	OMIM:126600	J:129901