Table 1.
List of Tfrc-mutant mouse strains generated by ENU mutagenesis
| Mutant | Nucleotide mutation, cDNA | Amino acid change | Mean heterozygote MCV | Homozygote phenotype | CD71 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.