Primary Identifier | MGI:97489 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 18507 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including embryonic cranial skeleton morphogenesis; skeletal muscle cell differentiation; and telencephalon development. Located in nucleus. Is expressed in several structures, including central nervous system; future brain; immune system; liver; and urinary system. Human ortholog(s) of this gene implicated in acute lymphoblastic leukemia. Orthologous to human PAX5 (paired box 5). PHENOTYPE: Null mutants exhibit impaired development of the midbrain resulting in a reduced inferior colliculus and an altered cerebellar folial pattern, failure of B cell differentiation, runting, and high postnatal mortality with few survivors. [provided by MGI curators] |