| Primary Identifier | MGI:105923 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 13617 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables endothelin receptor activity. Involved in several processes, including cellular response to gonadotropin stimulus; circulatory system development; and neuron differentiation. Acts upstream of or within several processes, including adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; neural crest cell development; and regulation of D-glucose transmembrane transport. Is active in cell periphery. Is expressed in several structures, including alimentary system; branchial arch; cardiovascular system; central nervous system; and genitourinary system. Used to study mandibulofacial dysostosis with alopecia and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in hypertension (multiple); lung disease; mandibulofacial dysostosis with alopecia; migraine; and obstructive sleep apnea. Orthologous to human EDNRA (endothelin receptor type A). PHENOTYPE: Homozygous inactivation of this gene results in numerous severe craniofacial defects and perinatal lethality. Aberrant middle ear development and cardiac defects, including great vessel malformations and abnormal cardiac outflow tract development, have been observed. [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
