Primary Identifier | MGI:98885 | Organism | mouse, laboratory |
Chromosome | 11 | Mgi Type | pseudogene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity and pre-mRNA 3'-splice site binding activity. Involved in mRNA splicing, via spliceosome. Part of U12-type spliceosomal complex. Is expressed in several structures, including early conceptus; liver; nervous system; reproductive system; and sensory organ. Human ortholog(s) of this gene implicated in acute myeloid leukemia and myelodysplastic syndrome. Orthologous to human ZRSR2P1 (ZRSR2 pseudogene 1) and ZRSR2 (zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2). PHENOTYPE: Heterozygotes for a targeted null mutation of this imprinted gene are viable and fertile regardless of the parental origin of the mutated allele. Mice inheriting a null allele maternally and a paternal null allele for Zrsr1 fail to develop beyond the 2 cell stage, with very few reaching morula stage and none implanting. [provided by MGI curators] |