Primary Identifier | MGI:103291 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 19377 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metal ion binding activity. Involved in circadian regulation of gene expression. Acts upstream of or within regulation of growth; regulation of transcription by RNA polymerase II; and skeletal system development. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb bud; and sensory organ. Used to study Potocki-Lupski syndrome and Smith-Magenis syndrome. Human ortholog(s) of this gene implicated in Smith-Magenis syndrome. Orthologous to human RAI1 (retinoic acid induced 1). PHENOTYPE: Mice homozygous for disruptions of this gene usually die as embryos. Survivors have shortened life spans and show severe craniofacial and axial skeleton defects. [provided by MGI curators] |