Primary Identifier | MGI:2147077 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 106522 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables non-membrane spanning protein tyrosine kinase activity. Involved in several processes, including negative regulation of Golgi to plasma membrane protein transport; positive regulation of bone mineralization; and positive regulation of chondrocyte differentiation. Acts upstream of or within bone mineralization; limb morphogenesis; and skeletal system development. Located in Golgi apparatus and extracellular region. Is expressed in several structures, including alimentary system; arm; embryo ectoderm; embryo mesenchyme; and mesothelium. Orthologous to human PKDCC (protein kinase domain containing, cytoplasmic). PHENOTYPE: Homozygous null mutants die on postnatal day P0, apparently due to ineffective respiration. They exhibit shortening of all the long bones of the fore- and hindlimbs, cleft palate, sternal dysraphia and deficient mineralization or other anomalies of multiple bones throughout the body. [provided by MGI curators] |