Primary Identifier | MGI:98283 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 110809 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RS domain binding activity and mRNA binding activity. Involved in interleukin-17-mediated signaling pathway; protein localization to organelle; and regulation of gene expression. Acts upstream of or within RNA splicing; cardiac muscle contraction; and in utero embryonic development. Located in nuclear speck. Is expressed in several structures, including central nervous system; foregut; jaw; sensory organ; and thymus. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities. Orthologous to human SRSF1 (serine and arginine rich splicing factor 1). PHENOTYPE: Homozygous null mice display early embryonic lethality. Cardiac specific conditional deletion mutants shows cardiac malfunction and premature death. [provided by MGI curators] |