| 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 8.0.0) Enables hormone activity. Involved in several processes, including bone trabecula formation; positive regulation of osteoblast differentiation; and sequestering of TGFbeta in extracellular matrix. Acts upstream of or within embryonic limb morphogenesis. Located in extracellular region and 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
