Key result
Genetically modified mouse models of congenital dyserythropoietic anemias often fail to fully recapitulate human phenotypes, highlighting interspecies differences in erythropoiesis.
Why the study?
Suitable, experimentally tractable models are needed to understand the pathogenic mechanisms of congenital dyserythropoietic anemias at the molecular level.
This review highlights the available genetically modified mouse models for studying congenital dyserythropoietic anemias and the challenges due to interspecies differences in erythropoiesis.
Congenital dyserythropoietic anemias (CDAs) are a group of inherited disorders distinguished by ineffective production of red blood cells and peculiar abnormalities in the precursors from which red blood cells arise. The identification of disease-causing mutations and CDA-associated genes is rapidly improving the accuracy of diagnosis, aided by the growing accessibility of next-generation sequencing. Currently, it is much easier to identify the morphological abnormalities and classify different CDA types; however, a range of suitable, experimentally tractable models is needed in order to understand the pathogenic mechanisms at the molecular level. This review explains the basic concepts related to CDAs, covers different genetically modified mouse lines that are available for CDA researchers, and highlights the challenges inherent to modeling human disease in another species.
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Kumari et al. (2022) conducted a review in Congenital dyserythropoietic anemia. Genetically modified mouse models was evaluated. Genetically modified mouse models of congenital dyserythropoietic anemias often fail to fully recapitulate human phenotypes, highlighting interspecies differences in erythropoiesis.
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