Primary Identifier | MGI:104540 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 21922 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity; heparin binding activity; and kringle domain binding activity. Involved in ossification and positive regulation of plasminogen activation. Acts upstream of or within skeletal system development. Located in cytoplasm. Is expressed in several structures, including genitourinary system; gut; integumental system; serum; and skeletal musculature. Used to study Scheuermann's disease. Human ortholog(s) of this gene implicated in osteoarthritis and retinal macular dystrophy 4. Orthologous to human CLEC3B (C-type lectin domain family 3 member B). PHENOTYPE: Mice homozygous for a null allele develop pronounced cervical lordosis and thoracic kyphosis associated with wedge-shaped deformities of the vertebrae, growth plate irregularities, and an asymmetric development of the intervertebral disks. [provided by MGI curators] |