| Primary Identifier | MGI:3045253 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 268935 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable BMP binding activity; BMP receptor binding activity; and identical protein binding activity. Involved in positive regulation of osteoblast differentiation. Acts upstream of or within positive regulation of smoothened signaling pathway. Predicted to be located in plasma membrane. Predicted to be active in cell surface and extracellular space. Is expressed in several structures, including alimentary system; embryo ectoderm; embryo mesenchyme; integumental system; and nose. Human ortholog(s) of this gene implicated in short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Orthologous to human SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3). PHENOTYPE: Mice homozygous for a targeted allele encoding a truncated protein exhibit normal morphology. Mice with a point mutation show skeletal abnormalities, bone metabolism alterations, changes in renal function, behavioral alternations and hearing loss. [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
