Primary Identifier | MGI:2685047 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 545370 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Predicted to be an extracellular matrix structural constituent. Involved in basement membrane organization. Acts upstream of or within response to bacterium. Located in several cellular components, including basement membrane; cell cortex; and muscle tendon junction. Is expressed in several structures, including early embryo; extracellular matrix; limb; metanephros; and skin. Human ortholog(s) of this gene implicated in age related macular degeneration 1. Orthologous to human HMCN1 (hemicentin 1). PHENOTYPE: Mice homozygous for one null allele are viable and fertile with no gross abnormalities. Mice homozygous for a second null allele display hyperactivity and cataracts.Mice homozygous for a third null allele display failure of zygotic cell division. [provided by MGI curators] |