Primary Identifier | MGI:2443225 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 229542 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable sequence-specific DNA binding activity and zinc ion binding activity. Predicted to be involved in chromatin remodeling and negative regulation of transcription by RNA polymerase II. Predicted to be located in chromosome, telomeric region and nucleoplasm. Predicted to be part of NuRD complex. Is expressed in early conceptus and genitourinary system. Used to study GAND syndrome. Human ortholog(s) of this gene implicated in GAND syndrome. Orthologous to human GATAD2B (GATA zinc finger domain containing 2B). PHENOTYPE: Mice homozygous for a knock-out allele die perinatally. Heterozygotes survive to adulthood but exhibit a broad snout, an elevated nasion, abnormal cortical neuron development, and behavioral and learning abnormalities resembling the clinical features of GAND patients. [provided by MGI curators] |