Primary Identifier | MGI:1920963 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 73713 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables pre-mRNA intronic binding activity. Involved in heart formation; regulation of RNA splicing; and spliceosome-depend formation of circular RNA. Located in cytoplasmic ribonucleoprotein granule. Is active in nucleus. Is expressed in several structures, including diaphragm; extraembryonic component; heart; limb segment; and skeletal musculature. Used to study atrial fibrillation and dilated cardiomyopathy 1DD. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and dilated cardiomyopathy 1DD. Orthologous to human RBM20 (RNA binding motif protein 20). PHENOTYPE: Mice homozygous for an allele lacking the RNA recognition motif exhibit increased titin compliance, and attenuated Frank-Starling mechanism. [provided by MGI curators] |