Primary Identifier | MGI:1891221 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 56693 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to contribute to collagen binding activity. Involved in spermatogenesis. Located in endoplasmic reticulum. Is expressed in several structures, including dermis; genitourinary system; heart; rib; and stomach. Used to study osteogenesis imperfecta type 7. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 7. Orthologous to human CRTAP (cartilage associated protein). PHENOTYPE: Homozygotes develop kyphoscoliosis and osteoporosis as a result of defects in bone formation. [provided by MGI curators] |