| Primary Identifier | MGI:95688 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 14563 |
| 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; cytokine activity; and identical protein binding activity. Acts upstream of or within several processes, including limb morphogenesis; negative regulation of mesenchymal cell apoptotic process; and positive regulation of chondrocyte differentiation. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in extracellular space. Is expressed in several structures, including connective tissue; heart; limb; middle ear; and skeletal system. Used to study bone development disease (multiple) and osteoarthritis. Human ortholog(s) of this gene implicated in Parkinson's disease and bone disease (multiple). Orthologous to human GDF5 (growth differentiation factor 5). PHENOTYPE: Homozygous mutations in this gene can cause joint patterning defects leading to complete or partial fusions between specific skeletal elements and alterations in the patterns of repeating structures in the digits, wrists and ankles. [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
