Primary Identifier | MGI:98284 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 20382 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables pre-mRNA binding activity. Acts upstream of or within regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. Part of spliceosomal complex. Is expressed in several structures, including central nervous system; early conceptus; hemolymphoid system gland; reproductive system; and retina. Used to study myelodysplastic syndrome. Human ortholog(s) of this gene implicated in acute myeloid leukemia; congestive heart failure; hepatocellular carcinoma; and myelodysplastic syndrome. Orthologous to human SRSF2 (serine and arginine rich splicing factor 2). PHENOTYPE: Homozygous mutants are embryonic lethal. Deaths occur prior to E7.5. Cre induced inactivation of this pre-mRNA splicing factor in the thymus impairs T-cell maturation. Inactivation in ventricular cardiomyocytes results in dilated cardiomyopathy without gross changes in cardiomyocyte development. [provided by MGI curators] |