| Primary Identifier | MGI:2442480 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 230801 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable mannosyltransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be part of mannosyltransferase complex. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in hyperphosphatasia with impaired intellectual development syndrome 1. Orthologous to human PIGV (phosphatidylinositol glycan anchor biosynthesis class V). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy, are runted, have thymus hypoplasia and show craniofacial and kidney defects. [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
