In vertebrates, mutations in different ribosomal protein subunits result in a variety of phenotypes, suggesting unique and perhaps extra-ribosomal functions for these proteins. Diamond-Blackfan Anemia (DBA) is a ribosomal protein disease, in which the bone marrow fails to produce red blood cells.
NHGRI investigators recently generated a mouse line with a mutation in small ribosomal protein7 (Rps7), known to be involved in DBA. This line named Zuma (made with the use of the mutagen N-ethyl-N-nitrosourea (ENU)) carries a point mutation in exon 7 of Rps7, which is predicted to cause a substitution of a conserved amino acid (pY177S). The mutation results in the disruption of ribosomal biogenesis, as well as in abnormal skeletal, melanocyte, and central nervous system development. Thus, the Zuma line can be used as a model of DBA, as well as a tool for investigating other defects of mammalian development.