| Primary Identifier | MGI:108067 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 21869 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and intronic transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including hypothalamus development; positive regulation of circadian rhythm; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including lung development; nervous system development; and regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; brain; neural ectoderm; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in choreatic disease and thyroid gland papillary carcinoma. Orthologous to human NKX2-1 (NK2 homeobox 1). PHENOTYPE: Homozygotes for a targeted mutation have profoundly abnormal lungs and ventral forebrain defects, lack thyroids, pituitary gland, and tracheoesophageal septation, and die at birth from respiratory failure. Carriers show incoordination and high TSH. [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
