Primary Identifier | MGI:95390 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 13799 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in embryonic brain development and negative regulation of neuron apoptotic process. Acts upstream of or within nervous system development and positive regulation of transcription by RNA polymerase II. Predicted to be located in fibrillar center and nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including brain; embryo ectoderm; genitourinary system; gut; and limb bud. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human EN2 (engrailed homeobox 2). PHENOTYPE: This locus affects anterior-posterior cerebellar patterning. Homozygous null mutants show altered foliation pattern and perform poorly in motor learning (rotarod) tests. Heterozygotes test intermediate on rotarod. Hypomorphs show no phenotypic effects. [provided by MGI curators] |