| Primary Identifier | MGI:1915523 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 68273 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity and manganese ion binding activity. Acts upstream of or within several processes, including nervous system development; protein O-linked mannosylation; and reactive gliosis. Predicted to be located in membrane. Predicted to be active in Golgi membrane. Is expressed in several structures, including alimentary system; genitourinary system; liver; nervous system; and respiratory system. Used to study Walker-Warburg syndrome and muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in lissencephaly; muscular dystrophy (multiple); and retinitis pigmentosa. Orthologous to human POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)). PHENOTYPE: Surviving homozygous null mice display a mild dystrophy despite a reduced muscle mass and myofiber number, impaired muscle regeneration and low proliferative activity of satellite cells. Mice homozygous for a gene trap allele show reduced fertility and multiple defects in muscle, eye and brain. [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
