Primary Identifier | MGI:105043 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 11622 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including E-box binding activity; aryl hydrocarbon receptor binding activity; and protein dimerization activity. Involved in several processes, including kidney development; lymphocyte homeostasis; and regulation of gene expression. Acts upstream of or within negative regulation of transcription by RNA polymerase II; positive regulation of RNA polymerase II transcription preinitiation complex assembly; and prostate gland development. Located in cytosol. Is active in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; lung; nervous system; and sensory organ. Used to study congenital nystagmus. Human ortholog(s) of this gene implicated in retinitis pigmentosa 85. Orthologous to human AHR (aryl hydrocarbon receptor). PHENOTYPE: Homozygotes for null or hypomorphic alleles do not respond to cyclic compounds (e.g., dioxin) and are resistant to their teratogenic effects. Depending on the allele, null mutants may also have liver defects, impaired female fertility, neonatal or postnatal lethality, and spleen abnormalities. Conditional homozygous KO in the retina leads to retinal degeneration. Conditional KO in neural progenitor cells leads to decreased susceptibility to ischemic brain injury. [provided by MGI curators] |