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Symbol Name ID |
Efemp2
epidermal growth factor-containing fibulin-like extracellular matrix protein 2 MGI:1891209 |
| Darker colors indicate more annotations |
| Human Phenotypes | Micrognathia |
Retrognathia |
Prominence of the premaxilla |
Malar flattening |
Microcephaly |
Bowing of the long bones |
Long fingers |
Arachnodactyly |
Abnormal femoral metaphysis morphology |
Abnormal tibial metaphysis morphology |
Abnormal metaphysis morphology |
Joint swelling |
Flexion contracture |
Joint hypermobility |
Pathologic fracture |
Pectus carinatum |
Pectus excavatum |
Scoliosis |
Osteolysis |
Osteosarcoma |
| Disease(s) Associated with EFEMP2 | ||||||||||||||||||||
| arterial tortuosity syndrome | ||||||||||||||||||||
| autosomal recessive cutis laxa type IB | ||||||||||||||||||||
| osteosarcoma |
| Mouse Phenotypes | abnormal tendon collagen fibril morphology |
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| Availability | Mouse Genotype | |
| Efemp2tm1.1Chu/Efemp2tm1.1Chu | ||
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 04/30/2024 MGI 6.23 |
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