| 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 9.1.0) 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 alimentary system; egg cylinder; embryo mesenchyme; forebrain; and skeletal musculature. 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] |