Primary Identifier | MGI:1333818 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 20115 |
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 neural crest cell differentiation and neural tube closure. Part of cytosolic small ribosomal subunit. Is active in synapse. Is expressed in brain; cerebral cortex ventricular layer; cortical plate; and pancreas epithelium. Human ortholog(s) of this gene implicated in Diamond-Blackfan anemia 8. Orthologous to human RPS7 (ribosomal protein S7). PHENOTYPE: Mice heterozygous for this ENU-induced mutation exhibit a white ventral patch and an extremely kinked or looped tail. Homozygotes exhibit an open hindbrain and defective neural crest production at E9.5. [provided by MGI curators] |