Primary Identifier | MGI:2443342 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 241062 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phosphatidylinositol deacylase activity. Acts upstream of or within embryonic pattern specification; regionalization; and sensory perception of sound. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including brain; genitourinary system; and neural ectoderm. Used to study holoprosencephaly. Orthologous to human PGAP1 (post-GPI attachment to proteins inositol deacylase 1). PHENOTYPE: Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive. [provided by MGI curators] |