Primary Identifier | MGI:1931520 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 83703 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA lariat debranching enzyme activity. Acts upstream of or within mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; early conceptus; genitourinary system; and hemolymphoid system. Human ortholog(s) of this gene implicated in brain disease. Orthologous to human DBR1 (debranching RNA lariats 1). PHENOTYPE: Homozygotes for a null allele show normal blastocyst formation but exhibit complete embryonic lethality prior to organogenesis. Homozygotes for a hypomorphic gene trap allele exhibit prenatal lethality while heterozygotes show impaired class switch recombination in B cells. [provided by MGI curators] |