Primary Identifier | MGI:1333780 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 20085 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) A structural constituent of ribosome. Acts upstream of or within Notch signaling pathway. Part of cytosolic small ribosomal subunit. Is active in synapse. Is expressed in early conceptus and embryo. Human ortholog(s) of this gene implicated in Diamond-Blackfan anemia and Diamond-Blackfan anemia 1. Orthologous to human RPS19 (ribosomal protein S19). PHENOTYPE: Homozygous null embryos die prior to the formation of a blastocyst. Mice heterozygous for some point mutations show pigment defects affecting the feet and tail. [provided by MGI curators] |