Primary Identifier | MGI:106923 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 21892 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables collagen binding activity. Predicted to be involved in dorsal/ventral pattern formation and protein processing. Predicted to act upstream of or within cell differentiation. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Is expressed in several structures, including brain; cardiovascular system; hepatic primordium; sclerotome condensation; and trachea mesenchyme. Human ortholog(s) of this gene implicated in atrial heart septal defect 6; congenital heart disease; and coronary artery disease. Orthologous to human TLL1 (tolloid like 1). PHENOTYPE: Homozygous null mice are embryonic lethal with death at midgestation from cardiac failure. Cardiac defects include incomplete formation of the ventricular septum and abnormal positioning of the heart and aorta. [provided by MGI curators] |