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Symbol
Name
ID
Efemp1
epidermal growth factor-containing fibulin-like extracellular matrix protein 1
MGI:1339998
Phenotype annotations related to vision/eye
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Reticular pigmentary degeneration
Retinal dystrophy
Visual impairment
Disease(s) Associated with EFEMP1
Doyne honeycomb retinal dystrophy

Mouse Phenotypes
vision/eye phenotype
abnormal choriocapillaris morphology
abnormal retinal pigment epithelium morphology
retinal pigment epithelium atrophy
abnormal eye morphology
retinal detachment
abnormal Bruch membrane morphology
Availability Mouse Genotype
Efemp1tm1Eap/Efemp1tm1Eap
Efemp1tm1Lmar/Efemp1tm1Lmar
Efemp1tm2Lmar/Efemp1tm2Lmar *
Efemp1tm1Eap/Efemp1+
Efemp1tm1Lmar/Efemp1+

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory