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 8.0.0) 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 retinal cone cell apoptotic process. 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 breast cancer (multiple); cervix uteri carcinoma in situ; 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, abnormal ear morphology, deafness, and abnormal thyroid morphology. Mice homozygous for allele with point mutations exhibit disruption in thyroid hormone sensitivity. [provided by MGI curators] |