Journal article

Characterization of Tfrc-mutant mice with microcytic phenotypes

Ashlee J Conway, Fiona C Brown, Gerhard Rank, Benjamin T Kile, Craig J Morton, Stephen M Jane, David J Curtis



To identify novel regulators of erythropoiesis, we performed independent forward genetic screens using the chemical mutagen ENU in mice. Among progeny displaying microcytic red-cell phenotypes, 7 independent mouse strains harboring mutations within the transferrin receptor gene Tfrc were identified. Six of the mutants, including the previously described red blood cell 6 (RBC6) strain, displayed reduced erythroblast CD71 expression and midgestation lethality of homozygotes (E12.5-E14.5), and 1 novel strain, RBC21, displayed a variable phenotype with sustained CD71 expression and late homozygous lethality (E18.5). Standard iron studies were normal in the RBC21 mutant, but intracellular ferriti..

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University of Melbourne Researchers


Awarded by Australian National Health and Medical Research Council

Funding Acknowledgements

The authors thank Rust Turakolov and Matthew Tinning at the Australian Genome Research Facility for their contributions to gene sequencing and bioinformatics, as well as support from the Australian Phenomics Network. The authors also thank Eva Orlowski and Alfred Medical Research and Education Precinct FlowCore for cytometry services and the Animal Research Laboratory (Monash University) and its technicians for animal husbandry.This work was supported in part by Project Grant #382900 (S.M.J. and D.J.C.) and Program Grant #1016647 (B.T.K.) and Independent Research Institutes Infrastructure Support Scheme Grant #361646 (B.T.K.) from the Australian National Health and Medical Research Council and a Viertel Senior Medical Research Fellowship (D.J.C).