Erythropoietin Receptor and Familial Erythrocytosis

In contrast to the situation with the G-CSF receptor, heterozygous carboxyl truncations of the human EPOR are associated not with anemia but with polycythemia and are often transmitted in the germline (157,158). A multistep targeted gene modification approach has been used to replicate one mutated HuEPO receptor (C5964 —> G) in a murine model (159). These mice show a haploinsufficiency phenotype with polycythemia. Mice homozygous for this mutation (a situation not observed clinically) develop severe polycythemia, but are viable.

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