| Primary Identifier | MGI:1101355 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 16998 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable transforming growth factor beta binding activity. Acts upstream of or within several processes, including negative regulation of chondrocyte differentiation; positive regulation of bone resorption; and transforming growth factor beta receptor signaling pathway. Located in extracellular region. Is expressed in several structures, including cardiovascular system; central nervous system; jaw; limb; and respiratory system. Used to study brachyolmia-amelogenesis imperfecta syndrome. Human ortholog(s) of this gene implicated in brachyolmia-amelogenesis imperfecta syndrome and geleophysic dysplasia 3. Orthologous to human LTBP3 (latent transforming growth factor beta binding protein 3). PHENOTYPE: Homozygotes for a targeted null mutation exhibit craniofacial malformations including an overshot mandible and ossification of synchondroses. Mutants develop osteosclerosis of long bones and osteoarthritis, and, in some cases, high corticosterone levels. [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
