| Primary Identifier | MGI:1858500 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 54004 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables actin binding activity. Acts upstream of or within several processes, including actin filament polymerization; ephrin receptor signaling pathway; and plasma membrane bounded cell projection organization. Predicted to be located in endoplasmic reticulum and nucleolus. Predicted to be active in actin filament. Is expressed in brain and inner ear. Human ortholog(s) of this gene implicated in primary ovarian insufficiency and primary ovarian insufficiency 2A. Orthologous to human DIAPH2 (diaphanous related formin 2). PHENOTYPE: Male chimeras hemizygous for a gene-trapped allele appear normal at E10.5. Chimeras hemizygous for another gene-trapped allele exhibit hemorrhage, cardiac defects, and brain malformations from E11 onward. Homo- or hemizygous knockout does not affect hearing. [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
