Primary Identifier | MGI:2685177 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 70417 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Notch binding activity. Involved in several processes, including myoblast development; positive regulation of myoblast proliferation; and skeletal muscle satellite cell proliferation. Acts upstream of or within apoptotic process involved in development; engulfment of apoptotic cell; and recognition of apoptotic cell. Located in phagocytic cup. Is expressed in several structures, including brain; heart; retina layer; skeletal muscle tissue; and testis. Human ortholog(s) of this gene implicated in congenital myopathy 10B and early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome. Orthologous to human MEGF10 (multiple EGF like domains 10). PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal spacing of starburst amacrine cells and horizontal cells. Homozygotes for another targeted allele exhibit impaired phagocytosis of apoptotic cells by astrocytes. Mice heterozygous for this same allele exhibit mild disorganization of starburts amacrine cells. [provided by MGI curators] |