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Thiamin-responsive megaloblastic anemia syndrome (TRMA) is characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Mutations in the thiamin transporter gene SLC19A2 cause TRMA. To generate a mouse model of TRMA, we developed an Slc19a2 targeting construct using transposon-mediated mutagenesis and disrupted the gene through homologous recombination in embryonic stem cells. Erythrocytes from Slc19a2 À/À mice lacked the high-affinity component of thiamin transport. Ondoi:10.1093/hmg/11.23.2951 pmid:12393806 fatcat:lpmewly4mjamle7abjy35zcdsy