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Article

Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2.

Molecular genetics and metabolism - 1 Jan 2000

Fleming Judith C, Tartaglini Elena, Kawatsuji Ryosuke, Yao David, Fujiwara Yuko, Bednarski Jeffrey J, Fleming Mark D, Neufeld Ellis J

Abstract excerpt

Thiamine-responsive megaloblastic anemia with diabetes and deafness (TRMA) is an autosomal recessive disease caused by mutations in the high-affinity thiamine transporter gene SLC19A2. To study the role of thiamine transport in the pathophysiology of TRMA syndrome and of each of the component disorders, we created a targeted disruption of the Slc19a2 gene in mice. Slc19a2 -/- mice are viable and females are...

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PMID: 14567973
DOI: 10.1016/s1096-7192(03)00141-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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