| Primary Identifier | MGI:2143424 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 215494 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables acetylglucosaminyltransferase activity. Involved in neuron migration and protein O-linked mannosylation. Predicted to be active in endoplasmic reticulum membrane. Is expressed in brain and eye. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A8 and muscular dystrophy-dystroglycanopathy type C8. Orthologous to human POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased birth body size and complete neonatal lethality associated with abnormal basal lamina formation and a neuronal migration defect due to a lack of laminin-binding glycans on alpha-dystroglycan. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
