Primary Identifier | MGI:1926212 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 59024 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; chromatin binding activity; and transcription coactivator activity. Acts upstream of or within several processes, including chordate embryonic development; embryonic brain development; and glial cell development. Part of mediator complex. Is expressed in brain; tibialis anterior; and tongue. Human ortholog(s) of this gene implicated in FG syndrome; leiomyosarcoma; major depressive disorder; phobic disorder; and syndromic X-linked intellectual disorder Lujan-Fryns-type. Orthologous to human MED12 (mediator complex subunit 12). PHENOTYPE: Male chimeras hemizygous for a null allele arrest at E7.5 and lack anterior visceral endoderm. Male chimeras hemizygous for a hypomorphic allele die at E10.5 showing failure of neural crest cell migration and severe defects in neural tube closure, axis elongation, somitogenesis and heart formation. [provided by MGI curators] |