| Primary Identifier | MGI:1337100 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 22388 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable actin filament binding activity. Involved in several processes, including cytoskeleton organization; establishment of planar polarity of follicular epithelium; and platelet formation. Acts upstream of or within positive regulation of actin filament depolymerization; regulation of ventricular cardiac muscle cell membrane repolarization; and sarcomere organization. Located in myelin sheath. Is active in glutamatergic synapse. Is expressed in several structures, including early conceptus; embryo mesenchyme; genitourinary system; heart; and telencephalon. Orthologous to human WDR1 (WD repeat domain 1). PHENOTYPE: Severe loss of function at this locus causes embryonic lethality. Mice homozygous for a hypomorphic ENU-induced allele exhibit thrombocytopenia due to impaired megakaryocyte maturation and platelet shedding, and develop autoinflammatory disease associated with defects in neutrophil function. [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
