| Primary Identifier | MGI:1927339 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 56217 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable guanylate kinase activity; identical protein binding activity; and protein domain specific binding activity. Involved in nervous system development; protein localization to myelin sheath abaxonal region; and regulation of transforming growth factor beta receptor signaling pathway. Acts upstream of or within gene expression; plasma membrane organization; and protein localization. Located in several cellular components, including Schmidt-Lanterman incisure; lateral loop; and myelin sheath adaxonal region. Is active in apical part of cell. Is expressed in several structures, including central nervous system; early conceptus; and eye. Used to study Leber congenital amaurosis. Orthologous to human PALS1 (protein associated with LIN7 1, MAGUK p55 family member). PHENOTYPE: Mice homozygous for a floxed allele activated in cortical neuron exhibit loss of cortex neurons due to premature differentiation and increased apoptosis. These mice also exhibit behavioral defects but are otherwise viable and fertile. Heterozygous mice exhibit an intermediate phenotype. [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
