| Primary Identifier | MGI:109448 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 12627 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables activin receptor binding activity. Involved in nodal signaling pathway. Acts upstream of or within several processes, including heart development; left lung morphogenesis; and spleen development. Predicted to be located in plasma membrane. Predicted to be active in cell surface and extracellular region. Is expressed in several structures, including embryo mesoderm; intermediate mesenchyme; neural ectoderm; and primitive streak. Used to study dextro-looped transposition of the great arteries; double outlet right ventricle; right atrial isomerism; and visceral heterotaxy. Human ortholog(s) of this gene implicated in tetralogy of Fallot and visceral heterotaxy. Orthologous to several human genes including CFC1 (cryptic, EGF-CFC family member 1). PHENOTYPE: Targeted null mutations of this gene result in left-right laterality defects, including randomization of abdominal situs, asplenia or severe hyposplenia, pulmonary right isomerism, randomized embryo turning and cardiac looping, and postnatal death due tocomplex cardiac malformations. [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
