| Primary Identifier | MGI:2446294 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 269878 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Involved in several processes, including BMP signaling pathway; embryonic organ development; and fasciculation of sensory neuron axon. Acts upstream of or within several processes, including circulatory system development; determination of digestive tract left/right asymmetry; and embryonic brain development. Located in nucleus. Part of ubiquitin ligase complex. Is expressed in several structures, including branchial arch; ganglia; heart; limb bud; and telencephalon. Used to study Carpenter syndrome and visceral heterotaxy. Human ortholog(s) of this gene implicated in Carpenter syndrome. Orthologous to human MEGF8 (multiple EGF like domains 8). PHENOTYPE: Mice homozygous for an ENU mutation exhibit varying degrees of heterotaxia and congenital heart defects. Mice homozygous for another ENU-induced mutation exhibit abnormal development and patterning of the peripheral nervous system. [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
