A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice.


Journal Article

We have studied the flexed-tail (f) mouse to gain insight into mammalian mitochondrial iron metabolism. Flexed-tail animals have axial skeletal abnormalities and a transient embryonic and neonatal anemia characterized by pathologic intramitochondrial iron deposits in erythrocytes. Mitochondrial iron accumulation is the hallmark of sideroblastic anemias, which typically result from defects in heme biosynthesis or other pathways that lead to abnormal erythroid mitochondrial iron utilization. To clone the f gene, we used positional cloning techniques, and identified a frameshift mutation in a mitochondrial transmembrane protein. The mutated gene, Sfxn1, is the prototype of a novel family of evolutionarily conserved proteins present in eukaryotes.

Full Text

Duke Authors

Cited Authors

  • Fleming, MD; Campagna, DR; Haslett, JN; Trenor, CC; Andrews, NC

Published Date

  • March 15, 2001

Published In

Volume / Issue

  • 15 / 6

Start / End Page

  • 652 - 657

PubMed ID

  • 11274051

Pubmed Central ID

  • 11274051

International Standard Serial Number (ISSN)

  • 0890-9369

Digital Object Identifier (DOI)

  • 10.1101/gad.873001


  • eng

Conference Location

  • United States