| Primary Identifier | MGI:1916330 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 69080 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable transferase activity. Predicted to be involved in biosynthetic process. Predicted to be active in cytoplasm. Is expressed in several structures, including adrenal gland; alimentary system; central nervous system; eye; and gonad. Used to study alacrima, achalasia, and impaired intellectual development syndrome. Human ortholog(s) of this gene implicated in alacrima, achalasia, and impaired intellectual development syndrome. Orthologous to human GMPPA (GDP-mannose pyrophosphorylase A). PHENOTYPE: Mice homozygous for a null allele exhibit cortical layer defects, progressive neuron loss, myopathic alterations, progressive muscle weakness, cognitive impairments, and increased serum mannose levels. [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
