Primary Identifier | MGI:107178 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 15371 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. Is expressed in several structures, including branchial arch; cranial ganglion; eye; genitourinary system; and peripheral nervous system. Used to study oculoauricular syndrome. Human ortholog(s) of this gene implicated in oculoauricular syndrome. Orthologous to human HMX1 (H6 family homeobox 1). PHENOTYPE: Mice homozygous for a spontaneous mutation show perinatal lethality, reduced body mass and low set, laterally-protruding ears. In addition to these phenotypes, mice homozygous for an ENU mutation can display small eyes, mild cranial defects, and perinatal semilethality associated with exencephaly. [provided by MGI curators] |