Primary Identifier | MGI:1351629 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 27392 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable mannose-ethanolamine phosphotransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Predicted to be located in cytosol and plasma membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system and retina. Used to study holoprosencephaly. Human ortholog(s) of this gene implicated in multiple congenital anomalies-hypotonia-seizures syndrome 1. Orthologous to human PIGN (phosphatidylinositol glycan anchor biosynthesis class N). PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit abnormal gastrulation, forebrain hypoplasia, coloboma, and microphthalmia. [provided by MGI curators] |