Pomgnt1 Gene Summary [Mouse]
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-)). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Processed Transcript |
| Official Symbol | Pomgnt1 |
| Official Name | protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase [Source:MGI Symbol;Acc:MGI:1915523] |
| Ensembl ID | ENSMUSG00000028700 |
| Bio databases IDs | |
| Aliases | protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase |
| Synonyms | RIKEN cDNA 2510003B16 gene |
| Species | Mouse, Mus musculus |
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
phenotypes
- abnormal Cajal-Retzius cell morphology
- abnormal basement membrane morphology
- abnormal brain development
- abnormal brain pia mater morphology
- abnormal cerebellar foliation
- abnormal cerebellar hemisphere morphology
- abnormal cerebellum external granule cell layer morphology
- abnormal cerebellum morphology
- abnormal cerebral cortex morphology
- abnormal dentate gyrus morphology
- abnormal enzyme/coenzyme activity
- abnormal eye electrophysiology
- abnormal hippocampus morphology
- abnormal inferior colliculus morphology
- abnormal meninges morphology
- abnormal muscle physiology
- abnormal muscle regeneration
- abnormal neocortex morphology
- abnormal optic nerve morphology
- abnormal radial glial cell morphology
- abnormal retina inner limiting membrane morphology
- abnormal retinal blood vessel pattern
- abnormal retinal layer morphology
- abnormal skeletal muscle fiber morphology
- abnormal skeletal muscle satellite cell proliferation
- abnormal stratification in cerebral cortex
- abnormal superior colliculus morphology
- abnormal tongue muscle morphology
- centrally nucleated skeletal muscle fibers
- decreased body size
- decreased circulating glucose level
- decreased litter size
- decreased retinal ganglion cell number
- decreased skeletal muscle fiber number
- decreased skeletal muscle fiber size
- dilated lateral ventricles
- dystrophic muscle
- hydrocephaly
- impaired basement membrane formation
- increased variability of skeletal muscle fiber size
- limb grasping
- male infertility
- postnatal lethality incomplete penetrance
- preweaning lethality complete penetrance
- reduced female fertility
- retina microaneurysm
- retinal degeneration
- small cerebellum
- thin cerebral cortex
- thin retinal inner nuclear layer
- thin retinal outer nuclear layer
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Unknown