Primary Identifier | MGI:1345277 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 18214 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables collagen binding activity and protein tyrosine kinase collagen receptor activity. Involved in several processes, including chondrocyte proliferation; collagen fibril organization; and collagen-activated tyrosine kinase receptor signaling pathway. Acts upstream of or within cell surface receptor protein tyrosine kinase signaling pathway; positive regulation of cell population proliferation; and protein autophosphorylation. Predicted to be located in actin cytoskeleton and apical plasma membrane. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Is expressed in alimentary system; central nervous system; genitourinary system; and retina. Human ortholog(s) of this gene implicated in bone disease (multiple) and gastrointestinal system cancer (multiple). Orthologous to human DDR2 (discoidin domain receptor tyrosine kinase 2). PHENOTYPE: Homozygotes for a null allele show dwarfism, reduced chondrocyte proliferation, shortened long bones and snout, and skull anomalies. Homozygotes for another null allele show similar skeletal defects, small hearts, short cardiomyocytes, lower cardiac collagen density, and altered cardiac function. [provided by MGI curators] |