Primary Identifier | MGI:1353609 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 30928 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and skeletal muscle tissue development. Acts upstream of or within several processes, including in utero embryonic development; nervous system development; and regulation of cell division. Located in nucleus. Is expressed in several structures, including genitourinary system; limb; nervous system; sensory organ; and skeleton. Used to study autosomal dominant intellectual developmental disorder. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 22. Orthologous to human ZBTB18 (zinc finger and BTB domain containing 18). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, cortical and hippocampal hypoplasia and laminar disorganization, and abnormal neuron apoptosis and cell cycling. [provided by MGI curators] |