| Primary Identifier | MGI:95556 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 192176 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables potassium channel regulator activity and protein kinase C binding activity. Involved in several processes, including circulatory system development; positive regulation of potassium ion transmembrane transport; and regulation of neuron projection development. Acts upstream of or within actin cytoskeleton organization; early endosome to late endosome transport; and epithelial to mesenchymal transition. Located in several cellular components, including Z disc; actin cytoskeleton; and axonal growth cone. Is expressed in several structures, including bone; brain; great vessel of heart; gut; and heart. Used to study periventricular nodular heterotopia. Human ortholog(s) of this gene implicated in X-linked chronic idiopathic intestinal pseudo-obstruction; bone development disease (multiple); heart valve disease (multiple); periventricular nodular heterotopia; and terminal osseous dysplasia. Orthologous to human FLNA (filamin A). PHENOTYPE: Females heterozygous for an X-linked, ENU-induced mutation exhibit dilated pupils and milder cardiac, sternum, and palate defects than males. Hemizygous males are inviable and exhibit incomplete septation of the outflow tract, septal defects, cleft palate and incomplete fusion of the sternum. [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
