| Primary Identifier | MGI:102720 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 13618 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables endothelin receptor activity. Involved in several processes, including digestive tract development; metal ion transport; and protein transport. Acts upstream of or within several processes, including melanocyte differentiation; neuroblast migration; and posterior midgut development. Predicted to be located in nuclear membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut; heart; and peripheral nervous system. Used to study Hirschsprung's disease and Waardenburg syndrome type 4A. Human ortholog(s) of this gene implicated in ABCD syndrome; Hirschsprung's disease; Waardenburg syndrome (multiple); asthma; and pulmonary hypertension. Orthologous to human EDNRB (endothelin receptor type B). PHENOTYPE: Mice homozygous for null mutations have pigmentation limited to small patches on the head and rump and die from megacolon resulting from impaired neural crest migration and aganglionosis. Heterozygotes for a null allele show improved cardiac tolerance to hypoxia. [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
