Primary Identifier | MGI:98347 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 20646 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable snRNP binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be part of spliceosomal complex and spliceosomal snRNP complex. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; nasal cavity epithelium; nervous system; reproductive system; and submandibular gland primordium. Used to study Angelman syndrome and Prader-Willi syndrome. Human ortholog(s) of this gene implicated in Prader-Willi syndrome. Orthologous to human SNRPN (small nuclear ribonucleoprotein polypeptide N). PHENOTYPE: Homozygotes for targeted intragenic deletions are phenotypically normal. Deletions that also encompass neighboring genes on the paternal chromosome exhibit growth retardation, hypotonia, and high mortality. [provided by MGI curators] |