Primary Identifier | MGI:1926129 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 239985 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA binding activity. Predicted to contribute to nucleosome binding activity. Acts upstream of or within dendritic cell dendrite assembly; dendritic spine development; and neuron-neuron synaptic transmission. Located in nucleus. Part of nBAF complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study Coffin-Siris syndrome 1 and autism spectrum disorder. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome; Coffin-Siris syndrome 1; intellectual disability; lung non-small cell carcinoma; and neuroblastoma. Orthologous to human ARID1B (AT-rich interaction domain 1B). PHENOTYPE: Mice homozygous for a null allele die perinatally. Heterozygous null mice exhibit increased self-grooming, altered vocalization and response to social novelty, anxiety-like behavior, neuroanatomical anomalies, decreased plasma IGF1 levels, muscle weakness, and growth impairment. [provided by MGI curators] |