Primary Identifier | MGI:1859274 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 53318 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cytoskeletal protein binding activity. A structural constituent of muscle. Acts upstream of or within actin filament organization and heart development. Located in actin cytoskeleton. Is expressed in several structures, including branchial arch; central nervous system; genitourinary system; limb bud; and sensory organ. Used to study arrhythmogenic right ventricular cardiomyopathy. Orthologous to human PDLIM3 (PDZ and LIM domain 3). PHENOTYPE: Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults. [provided by MGI curators] |