Primary Identifier | MGI:1919847 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 319974 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable chromatin binding activity. Involved in several processes, including generation of neurons; positive regulation of Rac protein signal transduction; and positive regulation of lamellipodium assembly. Acts upstream of or within innate vocalization behavior and righting reflex. Located in growth cone and nucleus. Colocalizes with actin cytoskeleton. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study autosomal dominant intellectual developmental disorder and autosomal dominant intellectual developmental disorder 26. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 26. Orthologous to human AUTS2 (activator of transcription and developmental regulator AUTS2). PHENOTYPE: Mice homozygous for a brain-specific knockout are smaller than controls, and exhibit behavioral defects such as less vocalizations, impairments in righting response and geotaxis, and decreased food intake. [provided by MGI curators] |