| Primary Identifier | MGI:98849 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 22095 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables thyroid-stimulating hormone receptor activity. Involved in positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including adenylate cyclase-activating G protein-coupled receptor signaling pathway; dopaminergic neuron differentiation; and inner ear development. Located in plasma membrane. Is expressed in bladder; renal vasculature; thyroid gland; and thyroid gland lobe. Used to study congenital hypothyroidism. Human ortholog(s) of this gene implicated in Graves ophthalmopathy; Graves' disease; cardiomyopathy; mitral valve prolapse; and nonautoimmune hyperthyroidism. Orthologous to human TSHR (thyroid stimulating hormone receptor). PHENOTYPE: Mutations in this gene exhibit profound hypothyroidism, developmental and growth retardation, impaired hearing with cochlear defects, and infertility. One mutation results in high postweaning mortality. [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
