| Primary Identifier | MGI:95490 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 14119 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable hormone activity. Predicted to be an extracellular matrix structural constituent. Involved in several processes, including bone trabecula formation; negative regulation of transforming growth factor beta receptor signaling pathway; and positive regulation of osteoblast differentiation. Acts upstream of or within embryonic limb morphogenesis. Located in microfibril. Is expressed in several structures, including eye; heart; mesonephros; respiratory system; and urinary system. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in congenital contractural arachnodactyly and scoliosis. Orthologous to human FBN2 (fibrillin 2). PHENOTYPE: Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene. [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
