Table II.
Animal Models Used to Investigate RPs and Ribosomopathies
| RP | Species | Alteration | Phenotype | Mechanism | Ref. |
|---|---|---|---|---|---|
| S6 | Mouse | Conditional deletion (+/−) in liver cells | Cell cycle blockade in hepatocytes | Inhibits cyclin E mRNA expression | 9 |
| S6 | Mouse | Conditional deletion (+/−) in T cells | Cell cycle arrest in T cells | p53 pathway activation | 194 |
| S6 | Mouse | Deletion (+/−) in growing oocytes | Perigastrulation lethality | p53 pathway activation | 83 |
| S6 | Mouse | Phosphorylation site mutation | Smaller size, decreased pancreatic insulin secretion, and impaired glucose tolerance | Not studied | 58 |
| S7 | Mouse | ENU screening for mutation | Decreased body size, skeletal anomalies, midventral white spotting, and eye and central nervous system malformations | p53 pathway activation | 88 |
| S14 | Mouse | Conditional deletion (+/−) in hematopoietic progenitor cells | Hematopoietic progenitor cell deficiencies | p53 pathway activation | 102 |
| S19 | Mouse | Deletion (−/−) | Zygotes do not develop to normal blastocysts | Not studied | 105 |
| S20 | Mouse | Mutation (Dsk+/−) |
Increased pigmentation, erythrocyte hypoplasia | p53 stabilization stimulates Kit ligand expression | 103 |
| S7 | Zebrafish | Morpholino knockdown | Apoptosis, cell cycle arrest, impaired hematopoiesis | Activation of the p53 pathway and MMP family genes | 161 |
| S19 | Zebrafish | Morpholino knockdown | Erythropoietic failure | Activation of p53 family members (p53/ΔNp63/TAp73) | 191 |
| S29 | Zebrafish | Morpholino knockdown | Erythropoietic failure | Not studied | 162 |
| L22 | Mouse | Deletion (−/−) | Impaired αβ T cell development | Induction of p53 protein synthesis | 15 |
| L24 | Mouse | Mutation in C57BLKS Bst/+ mice | p53 pathway activated | p53 pathway activation | 268,269 |
| L27a | Mouse | Mutation in sooty foot ataxia (SFA) mice | Epidermal hyperpigmentation | p53 pathway activation | 270 |
| L29 | Mouse | Deletion (−/−) | Mild growth retardation | Decrease in global protein synthesis | 271 |
| L11 | Zebrafish | Morpholino knockdown | Defects in the development of hematopoietic stem cells (HSCs) and the maintenance of erythroid cells | p53 pathway activation | 192 |
| L38 | Zebrafish | Morpholino knockdown | Shorter body trunk | Not studied | 162 |