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 7.3.0) 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 and synapse. 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] |