| Primary Identifier | MGI:107191 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 12167 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables BMP binding activity; BMP receptor activity; and transforming growth factor beta receptor activity, type I. Involved in several processes, including BMP signaling pathway; ovarian cumulus expansion; and skeletal system development. Acts upstream of or within several processes, including cartilage condensation; neuron differentiation; and positive regulation of extrinsic apoptotic signaling pathway via death domain receptors. Located in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; limb; and sensory organ. Human ortholog(s) of this gene implicated in acromesomelic dysplasia-3; brachydactyly type A1D; brachydactyly type A2; and osteochondrodysplasia. Orthologous to human BMPR1B (bone morphogenetic protein receptor type 1B). PHENOTYPE: Mutantions of this gene affect the shape of the distal limb skeleton resulting in brachydactyly or failure to generate digit cartilage. Furthermore, inactivation results in female sterility due to abnormal oestrus cyclicity as well as retinal abnormalities. [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
