| Primary Identifier | MGI:95285 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 13616 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable endothelin B receptor binding activity and hormone activity. Involved in axon extension and axon guidance. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; melanocyte differentiation; and neural crest cell migration. Predicted to be active in extracellular space. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; gut; and limb mesenchyme. Used to study Hirschsprung's disease and Waardenburg syndrome type 4B. Human ortholog(s) of this gene implicated in Hirschsprung's disease; Waardenburg syndrome; and Waardenburg syndrome type 4B. Orthologous to human EDN3 (endothelin 3). PHENOTYPE: Homozygotes for mutations at this locus exhibit aganglionic megacolon with white spotting of the hair coat due to impaired expansion and differentiation of epidermal melanoblasts. Mutants die around weaning with impacted colons. [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
