| Primary Identifier | MGI:98743 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 21834 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables chromatin DNA binding activity and nuclear receptor activity. Acts upstream of or within several processes, including female mating behavior; regulation of transcription by RNA polymerase II; and type I pneumocyte differentiation. Located in nucleus. Is expressed in several structures, including brown fat; endocrine gland; liver; sensory organ; and vestibulo-cochlear ganglion. Used to study attention deficit hyperactivity disorder; follicular thyroid carcinoma; and thyroid hormone resistance syndrome. Human ortholog(s) of this gene implicated in several diseases, including cervix uteri carcinoma in situ; prostate cancer; renal cell carcinoma; selective pituitary thyroid hormone resistance; and thyroid hormone resistance syndrome. Orthologous to human THRB (thyroid hormone receptor beta). PHENOTYPE: Mice homozygous for a knock-out allele exhibit elevated T3, T4, and TSH serum levels, higher circulating and liver triglyceride levels, lower oxygen consumption, abnormal ear morphology, deafness, and abnormal thyroid morphology. Mice homozygous for an allele with point mutations exhibit disruption in thyroid hormone sensitivity. Homozygosity for a mutation that disturbs canonical ligand-receptor binding leads to increased body temperature, locomotor activity and oxygen consumption. [provided by MGI curators] |