Ontology highlight
ABSTRACT:
SUBMITTER: Conway AJ
PROVIDER: S-EPMC5992613 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Conway Ashlee J AJ Brown Fiona C FC Hortle Elinor J EJ Burgio Gaetan G Foote Simon J SJ Morton Craig J CJ Jane Stephen M SM Curtis David J DJ
Disease models & mechanisms 20180521 5
In this study, we performed a genome-wide N-ethyl-N-nitrosourea (ENU) mutagenesis screen in mice to identify novel genes or alleles that regulate erythropoiesis. Here, we describe a recessive mouse strain, called RBC19, harbouring a point mutation within the housekeeping gene, <i>Tpi1</i>, which encodes the glycolysis enzyme, triosephosphate isomerase (TPI). A serine in place of a phenylalanine at amino acid 57 severely diminishes enzyme activity in red blood cells and other tissues, resulting i ...[more]