Primary Identifier | MGI:96907 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 17118 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including actin filament binding activity; calmodulin binding activity; and protein kinase C binding activity. Involved in several processes, including actin filament organization; nervous system development; and response to endoplasmic reticulum stress. Located in several cellular components, including cell cortex; cytoskeleton; and germinal vesicle. Is active in organelle. Is expressed in several structures, including alimentary system; central nervous system; embryo ectoderm; nerve; and sensory organ. Human ortholog(s) of this gene implicated in Lynch syndrome. Orthologous to human MARCKS (myristoylated alanine rich protein kinase C substrate). PHENOTYPE: Homozygous null mutants exhibit perinatal lethality, absence of the corpus callosum and other forebrain commisures, neuronal ectopia, and defects of cortical and retinal lamination. About one-fourth of fetuses are exencephalic. [provided by MGI curators] |