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 8.0.0) Enables collagen binding activity. Predicted to be involved in dorsal/ventral pattern formation and protein processing. 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] |