Symbol Name ID |
Efemp1
epidermal growth factor-containing fibulin-like extracellular matrix protein 1 MGI:1339998 |
* | 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 retina pigment epithelium morphology |
retina pigment epithelium atrophy |
abnormal eye morphology |
retina detachment |
abnormal Bruch membrane morphology |
|
Availability | Mouse Genotype | |||||||
Efemp1tm1Eap/Efemp1tm1Eap | ||||||||
Efemp1tm1Lmar/Efemp1tm1Lmar | ||||||||
Efemp1tm2Lmar/Efemp1tm2Lmar | * | |||||||
Efemp1tm1Eap/Efemp1+ | ||||||||
Efemp1tm1Lmar/Efemp1+ |
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 03/19/2024 MGI 6.23 |
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