Primary Identifier | MGI:109330 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 19127 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and beta-catenin binding activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including diencephalon development; dorsal/ventral pattern formation; and positive regulation of transcription by RNA polymerase II. Part of transcription regulator complex. Is expressed in Rathke's pouch; adenohypophysis; adenohypophysis pars anterior; embryo; and pituitary gland. Used to study hypopituitarism. Human ortholog(s) of this gene implicated in combined pituitary hormone deficiency; hypogonadism; and hypopituitarism. Orthologous to human PROP1 (PROP paired-like homeobox 1). PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe proportional dwarfism, hypothyroidism, and sterility. Mutants fail to develop the anterior pituitary cells that secrete growth hormone, prolactin, and thyroid stimulating hormone. [provided by MGI curators] |