Primary Identifier | MGI:1351655 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 27428 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin binding activity. Acts upstream of or within several processes, including columnar/cuboidal epithelial cell development; neural tube closure; and regulation of cell shape. Located in several cellular components, including adherens junction; apical junction complex; and apical plasma membrane. Is expressed in several structures, including central nervous system; gut; heart; paraxial mesenchyme; and sensory organ. Orthologous to human SHROOM3 (shroom family member 3). PHENOTYPE: Homozygous mutation of this locus results in failed neural tube closure leading to exencephaly, acrania, facial clefting, and spina bifida. Homozygotes develop to term but die either at birth or shortly thereafter. Homozygotes for a gene trapped allele display congenital cardiac defects, as well as disrupted cardiomyocyte polarity, organization, proliferation and maturity. [provided by MGI curators] |