Primary Identifier | MGI:1351648 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 27385 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ubiquitin-protein transferase activity. Involved in negative regulation of DNA-templated transcription and regulation of circadian rhythm. Acts upstream of or within positive regulation of actin nucleation. Located in cytoplasm and nucleus. Is expressed in several structures, including central nervous system; egg cylinder; limb bud; pharynx; and reproductive system. Used to study Prader-Willi syndrome. Human ortholog(s) of this gene implicated in Schaaf-Yang syndrome. Orthologous to human MAGEL2 (MAGE family member L2). PHENOTYPE: Mice heterozygous for a null allele that is inherited paternally exhibit some postnatal lethality, reduced male fertility, abnormal circadian rhythm, and hypoactivity. Mice heterozygous for another paternal knock-out allele exhibit 50% neonatal lethalityassociated with weak suckling activity. [provided by MGI curators] |