| Primary Identifier | MGI:2441787 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 319277 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Involved in endosomal transport. Acts upstream of or within several processes, including endolysosomal toll-like receptor signaling pathway; neuromuscular process; and regulation of protein complex stability. Located in endosome. Part of WASH complex. Is expressed in early conceptus and oocyte. Used to study Wiskott-Aldrich syndrome. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 43. Orthologous to human WASHC4 (WASH complex subunit 4). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased embryo size, a rudimentary egg cylinder, failure of primitive streak formation, absent primitive node and head folds, failure to gastrulate, and complete lethality prior to organogenesis. Homozygous p.P1019R mutation causes endo-lysosomal disruption, leading to accumulation of neurodegenerative markers and progressive cognitive deficits and motor impairments. [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
