Primary Identifier | MGI:97290 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 17984 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables gamma-tubulin binding activity and promoter-specific chromatin binding activity. Acts upstream of or within several processes, including nervous system development; neurotrophin TRK receptor signaling pathway; and regulation of DNA-templated transcription. Located in several cellular components, including centrosome; cytosol; and nucleus. Part of protein-containing complex. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and sensory organ. Used to study Prader-Willi syndrome. Human ortholog(s) of this gene implicated in Prader-Willi syndrome. Orthologous to human NDN (necdin, MAGE family member). PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, cyanosis and respiratory distress. Mice heterozygous for a knock-out allele exhibit abnormal behavior, abnormal nervous system morphology and physiology and, when inherited maternally, postnatal lethality with cyanosis. [provided by MGI curators] |