Primary Identifier | MGI:104783 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 20238 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables POZ domain binding activity; RNA binding activity; and chromatin binding activity. Involved in brain development; learning or memory; and social behavior. Acts upstream of or within several processes, including negative regulation of insulin-like growth factor receptor signaling pathway; regulation of transcription by RNA polymerase II; and visual learning. Located in nuclear inclusion body. Part of protein-containing complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; liver; and skeleton. Used to study spinocerebellar ataxia type 1. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 1. Orthologous to human ATXN1 (ataxin 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased exploration, impaired spatial working memory, impaired coordination, and decreased paired-pulse facilitation. [provided by MGI curators] |