| Primary Identifier | MGI:1859993 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 55994 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; I-SMAD binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in SMAD protein signal transduction; stem cell differentiation; and ureteric bud development. Acts upstream of or within several processes, including BMP signaling pathway; brain development; and skeletal system development. Located in cytoplasm and nucleus. Is expressed in several structures, including craniocervical region bone; embryo mesenchyme; heart and pericardium; sensory organ; and urinary system. Used to study primary pulmonary hypertension. Human ortholog(s) of this gene implicated in primary pulmonary hypertension. Orthologous to human SMAD9 (SMAD family member 9). PHENOTYPE: Homozygous mutant mice in which exon 3 was deleted are viable and fertile. Mutant mice in which a neo cassette is inserted in exon 3 resulting in a hypomorphic allele exhibit reduced midbrain and hindbrain. [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
