| Primary Identifier | MGI:2446089 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 286940 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity. Acts upstream of or within several processes, including cellular response to type II interferon; epithelial cell development; and skeletal muscle tissue development. Located in several cellular components, including brush border; focal adhesion; and stress fiber. Is expressed in several structures, including alimentary system; brain; facial prominence; limb mesenchyme; and skeleton. Used to study spondylocarpotarsal synostosis syndrome. Human ortholog(s) of this gene implicated in Larsen syndrome; bone development disease (multiple); cleft palate; and spinal disease (multiple). Orthologous to human FLNB (filamin B). PHENOTYPE: Mutations in this gene cause skeletal defects including runting, premature mineralization, and bone fusion. Nullizygous mice show a delay and reduction in long bone growth. Truncation mutations cause early fusion of spinal vertebrae due to enhanced chondrocyte hypertrophy and early differentiation. [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
