Primary Identifier | MGI:1932339 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 81898 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity. Acts upstream of or within anterior/posterior pattern specification; blastocyst formation; and mRNA splicing, via spliceosome. Located in chromatin and nuclear matrix. Part of small nuclear ribonucleoprotein complex. Is expressed in several structures, including central nervous system; endocrine gland; genitourinary system; hemolymphoid system gland; and sensory organ. Used to study myelodysplastic syndrome. Human ortholog(s) of this gene implicated in hepatocellular carcinoma and myelodysplastic syndrome. Orthologous to human SF3B1 (splicing factor 3b subunit 1). PHENOTYPE: Homozygous null embryos die around the 16- to 32-cell stage. Heterozygous mice exhibit various skeletal transformations. [provided by MGI curators] |