| Primary Identifier | MGI:1201674 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 17127 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; chromatin binding activity; and identical protein binding activity. Involved in several processes, including JNK cascade; negative regulation of osteoblast proliferation; and positive regulation of chondrocyte differentiation. Acts upstream of or within several processes, including cell surface receptor protein serine/threonine kinase signaling pathway; embryonic morphogenesis; and regulation of DNA-templated transcription. Located in cytoplasm; nucleus; and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and limb. Used to study osteoarthritis. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 3; Lynch syndrome; and pancreatic cancer. Orthologous to human SMAD3 (SMAD family member 3). PHENOTYPE: Homozygotes for targeted mutations exhibit reduced mucosal immunity, chronic intestinal inflammation (sometimes with colonic adenocarcinoma), forelimb malformation, reduced mineralization of enamel, impaired growth of ovarian follicles, and develop osteoarthritis. [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
