Primary Identifier | MGI:1918708 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 71458 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity and transcription corepressor activity. Acts upstream of or within blastocyst hatching and negative regulation of transcription by RNA polymerase II. Located in nucleus. Is expressed in several structures, including alimentary system; eye; gonad; lung; and nervous system. Used to study syndromic microphthalmia 2. Human ortholog(s) of this gene implicated in dental caries; eye disease (multiple); and gastrointestinal system cancer (multiple). Orthologous to several human genes including BCOR (BCL6 corepressor). PHENOTYPE: Male chimeras hemizygous for either of two different gene trapped alleles die by E9.5 exhibiting anomalies in somite formation and heart looping, forebrain fusion, and microcephaly. Hemizygosity for other gene trapped alleles can cause patterning and embryo turning defects or abnormal gastrulation. [provided by MGI curators] |