Primary Identifier | MGI:95295 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 13653 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and enzyme binding activity. Involved in several processes, including cellular response to gamma radiation; circadian temperature homeostasis; and regulation of biosynthetic process. Acts upstream of or within several processes, including BMP signaling pathway; negative regulation of transcription by RNA polymerase II; and skeletal muscle cell differentiation. Located in nucleus. Is expressed in several structures, including brain; embryo mesenchyme; eye; genitourinary system; and jaw. Used to study myelodysplastic syndrome. Human ortholog(s) of this gene implicated in asthma. Orthologous to human EGR1 (early growth response 1). PHENOTYPE: Homozygotes for targeted mutations are small and infertile due to pituitary defects. Mutants exhibit reductions in somatotropes and growth hormone content, and a lack of luteinizing hormone-beta expression. Ovaries lack luteinizing hormone receptors. Memory defects are also seen. [provided by MGI curators] |