Primary Identifier | MGI:95389 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 13798 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including brain development; embryonic brain development; and motor learning. Acts upstream of or within several processes, including embryonic forelimb morphogenesis; nervous system development; and regionalization. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; integumental system; and limb ectoderm. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in Parkinson's disease. Orthologous to human EN1 (engrailed homeobox 1). PHENOTYPE: Mutant homozygotes usually die within 24 hours of birth. Mutants exhibit nervous system defects, including a lack of most of the colliculi, cerebellum, and the third and fourth cranial nerves in some lines. Skeletal anomalies have also been described. [provided by MGI curators] |