Table 1.

List of Tfrc-mutant mouse strains generated by ENU mutagenesis

MutantNucleotide mutation, cDNAAmino acid changeMean heterozygote MCVHomozygote phenotypeCD71 expression, heterozygote
BL/6 NA NA 46 NA Normal 
RBC1 T1849C Y617H 42 Lethal (E10.5-E12.5) Reduced 
RBC4 T2048A Y686Stop 42 Lethal (E10.5-E12.5) Reduced 
RBC5 T1925G L642R 41 Lethal (E10.5-E12.5) Reduced 
RBC6* T1934G L645R 43 Lethal (E10.5-E12.5) Reduced 
RBC8, RBC17 A2105G H702R 41 Lethal (E10.5-E12.5) Reduced 
RBC21 G1961A R654H 37 Lethal (E16.5-E18.5) Normal 
MutantNucleotide mutation, cDNAAmino acid changeMean heterozygote MCVHomozygote phenotypeCD71 expression, heterozygote
BL/6 NA NA 46 NA Normal 
RBC1 T1849C Y617H 42 Lethal (E10.5-E12.5) Reduced 
RBC4 T2048A Y686Stop 42 Lethal (E10.5-E12.5) Reduced 
RBC5 T1925G L642R 41 Lethal (E10.5-E12.5) Reduced 
RBC6* T1934G L645R 43 Lethal (E10.5-E12.5) Reduced 
RBC8, RBC17 A2105G H702R 41 Lethal (E10.5-E12.5) Reduced 
RBC21 G1961A R654H 37 Lethal (E16.5-E18.5) Normal 

Mouse mutants with autosomal-dominant microcytic phenotypes, identified in independent ENU mutagenesis screens, were deemed RBC mutants, by order of discovery. Mutants were phenotyped by their mean corpuscular volume (MCV), calculated by an automated blood analyzer (Hemavet, Drew Scientific). Timed pregnancy studies determined embryonic lethality in each mutant strain. CD71 expression was determined by flow cytometry, performed on live Ter-119+ bone marrow erythroblasts, which compared CD71 intensity with that of WT littermates in each cohort.

NA, not applicable.

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