Primary Identifier | MGI:98927 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 22330 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including alpha-catenin binding activity; beta-catenin binding activity; and enzyme binding activity. Acts upstream of or within cell adhesion; plasma membrane bounded cell projection organization; and regulation of cell migration. Located in several cellular components, including costamere; fascia adherens; and focal adhesion. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and leg. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; dilated cardiomyopathy 1W; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 15. Orthologous to human VCL (vinculin). PHENOTYPE: Homozygous null mutants die by embryonic day 10 with failed midline fusion of the rostral neural tube, bilobular cranial development and compromised cranial and spinal nerve development. Abnormal myocardial and endocardial structures are seen in the heart. [provided by MGI curators] |