Primary Identifier | MGI:1095413 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 16848 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity. Involved in lymphocyte differentiation; negative regulation of Notch signaling pathway involved in somitogenesis; and somitogenesis. Acts upstream of or within several processes, including compartment pattern specification; positive regulation of Notch signaling pathway; and regulation of somitogenesis. Predicted to be located in Golgi membrane. Is expressed in several structures, including alimentary system; embryo ectoderm; embryo mesenchyme; genitourinary system; and inner ear. Human ortholog(s) of this gene implicated in spondylocostal dysostosis 3. Orthologous to human LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit a short tail and abnormal rib, somite, and lung development. Mice homozygous mice exhibit reduced female fertility, abnormal hair cells, and abnormal axial skeleton morphology. [provided by MGI curators] |