Primary Identifier | MGI:1929913 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 58208 |
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. Acts upstream of or within several processes, including T cell differentiation; epithelial cell development; and neuron differentiation. Located in neuron projection and nucleus. Part of SWI/SNF complex. Is expressed in several structures, including alimentary system; central nervous system; cranium; nose; and skin. Human ortholog(s) of this gene implicated in immunodeficiency 49. Orthologous to human BCL11B (BCL11 transcription factor B). PHENOTYPE: Animals homozygous for a mutation of this gene are born with open eyes, exhibit abnormalities of the thymus, and die within 1 day after birth. Mice heterozygous for a hypomorphic allele and a knock-out allele exhibit lethality at weaning due to maxillaryincisor hyperplasia. [provided by MGI curators] |