| Primary Identifier | MGI:1916034 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 106042 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Predicted to enable zinc ion binding activity. Involved in several processes, including embryonic morphogenesis; extracellular matrix organization; and plasma membrane bounded cell projection organization. Acts upstream of or within aorta development and coronary vasculature development. Located in nucleus. Part of proteasome complex. Is active in several cellular components, including cell trailing edge; glutamatergic synapse; and postsynaptic density. Is expressed in several structures, including brain; embryo mesenchyme; genitourinary system; limb; and sensory organ. Used to study autism spectrum disorder; autosomal recessive Robinow syndrome; progressive myoclonus epilepsy 1B; and velocardiofacial syndrome. Human ortholog(s) of this gene implicated in progressive myoclonus epilepsy 1B. Orthologous to human PRICKLE1 (prickle planar cell polarity protein 1). PHENOTYPE: Heterozygous null or point mutations result in decreased seizure threshold. Homozygous null mice display early embryonic lethality associated with altered epiblast apical-basal polarity, failed anterior migration of the distal visceral endoderm, and lackof mesoderm and primitive streak formation. [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
