2006
DOI: 10.1016/j.bcmd.2005.12.002
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Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia

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Cited by 32 publications
(25 citation statements)
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“…An initial Rps19 knockout mouse model was lethal in the homozygous state and did not have a DBA phenotype in the heterozygous state, although the heterozygous mice did not have the expected decline in RPS19 levels. 88 Murine models now exist with heterozygous missense mutations in Rps19 or Rps20 or conditional deletion of Rps6. The RPS19 and RPS20 mice have only a mild macrocytic anemia, although this relatively benign phenotype may be explained by the fact that the mutations cause hypomorphic alleles rather than true haploinsufficiency.…”
Section: In Vitro and In Vivo Models Of Ribosomal Haploinsufficiencymentioning
confidence: 99%
“…An initial Rps19 knockout mouse model was lethal in the homozygous state and did not have a DBA phenotype in the heterozygous state, although the heterozygous mice did not have the expected decline in RPS19 levels. 88 Murine models now exist with heterozygous missense mutations in Rps19 or Rps20 or conditional deletion of Rps6. The RPS19 and RPS20 mice have only a mild macrocytic anemia, although this relatively benign phenotype may be explained by the fact that the mutations cause hypomorphic alleles rather than true haploinsufficiency.…”
Section: In Vitro and In Vivo Models Of Ribosomal Haploinsufficiencymentioning
confidence: 99%
“…Global translational rates are reduced in DBA cells irrespective of RPS19 mutations indicating that inefficient translation may be the cause of DBA (Cmejlova et al, 2006;Koga et al, 2006), but it also suggests that DBA patients with or without of RPS19 mutations cannot be distinguished by the level of translation. Mouse models have also not been informative in answering this question -homozygous rps19 À/À mice are embryonic lethal whereas heterozygous rps19 mice are viable with normal erythropoiesis and no apparent abnormalities (Matsson et al, 2006). This may be due to a compensatory mechanism since the rps19 expression levels in the rsp19 þ /À mice are similar or even greater than normal control littermates.…”
Section: Additional Genetic Alterations Implicating Mrna Translation mentioning
confidence: 99%
“…The first mouse model generated, an rps19 knockout, was homozygous lethal[9]. Heterozygous mice did not have a phenotype, but the wildtype rps19 locus was found to be upregulated, compensating for the mutant allele[10]. However, mice with a point mutation in rps19 do have a hematopoietic defect that is rescued by p53 knockdown[11].…”
Section: Introductionmentioning
confidence: 99%