Article
Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency.
Disease models & mechanisms - 21 May 2018
Conway Ashlee J, Brown Fiona C, Hortle Elinor J, Burgio Gaetan, Foote Simon J, Morton Craig J, Jane Stephen M, Curtis David J
Abstract excerpt
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, Tpi1, which encodes the glycolysis enzyme, triosephosphate isomerase (TPI). A serine in place of a phenylalanine at amino acid 57 severely...
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