| Primary Identifier | MGI:1339998 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 216616 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable epidermal growth factor receptor activity and epidermal growth factor receptor binding activity. Predicted to be involved in several processes, including negative regulation of chondrocyte differentiation; peptidyl-tyrosine phosphorylation; and regulation of cell projection organization. Located in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including alimentary system; brain; embryo mesenchyme; male reproductive gland or organ; and skeleton. Used to study Doyne honeycomb retinal dystrophy. Human ortholog(s) of this gene implicated in Doyne honeycomb retinal dystrophy and cutis laxa. Orthologous to human EFEMP1 (EGF containing fibulin extracellular matrix protein 1). PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. Mice homozygous for a single amino acid substitution develop deposits below the retinal pigment epithelium. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
