| Primary Identifier | MGI:1344412 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 24131 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables muscle alpha-actinin binding activity and protein kinase C binding activity. Acts upstream of or within sarcomere organization. Located in Z disc. Is expressed in several structures, including central nervous system; heart; lower urinary tract; musculature; and sensory organ. Used to study congenital myopathy; dilated cardiomyopathy 1C; and myofibrillar myopathy 1. Human ortholog(s) of this gene implicated in dilated cardiomyopathy; dilated cardiomyopathy 1C; distal myopathy; and myofibrillar myopathy 4. Orthologous to human LDB3 (LIM domain binding 3). PHENOTYPE: Homozygous mutation of this gene results in lethality within a few days after birth from muscle abnormalities. Mutant mice exhibit myopathy, dysphagia, heart vascular congestion, dilated heart ventricles, cyanosis, and respiratory distress. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
