| Primary Identifier | MGI:1096875 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 72145 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity. Predicted to be involved in aggrephagy. Located in cytoplasm. Is expressed in central nervous system; ganglia; heart; liver; and neural retina. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in primary autosomal dominant microcephaly 18. Orthologous to human WDFY3 (WD repeat and FYVE domain containing 3). PHENOTYPE: Mice homozygous for hypomorphic mutations of this gene exhibit perinatal lethality, altered neural progenitor divisions and neuronal migration, a regionally enlarged cerebral cortex, and focal cortical dysplasia. Homozygotes for a null allele show embryonic and neonatal lethality, congenital heart defects including VSD, overriding aorta and DORV, thin ventricular wall, dilated ventricles, and disorganized ventricular trabeculation. [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
