Phenotypes Associated with This Genotype

Genotype
MGI:3800793

• 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