Table 4.
Animal Models of Iron Regulation
| Mutant | Phenotype | Human disease | Reference |
|---|---|---|---|
| Hfe−/− | Hepatocyte iron overloading | HH Type 1 | 184, 336 |
| Hfe C28Y/C282Y | Macrophage iron overloading | ||
| Increased Tf saturation | |||
| Usf2−/− (Hepcidin) | Hepatocyte iron overloading | HH Type 2 | 215a |
| Macrophage iron overloading | |||
| Increased Tf saturation | |||
| TfR1−/− splicing | Tissue iron accumulation | Atransferrinemia | 20a |
| Microcytic hypochromic anemia | |||
| TfR1−/− | Embryonic lethal (GD 12.5) | Not applicable | 184 |
| TfR1+/− | Small RBCs; low hemoglobin | Anemia | 184 |
| Increased total iron stores | |||
| TfR2245X/245X | Hepatocyte iron overloading | HH Type 3 | 89 |
| Macrophage iron overloading | |||
| Increased Tf saturation | |||
| TfR2−/− | Iron overload | HH Type 3 | 317a |
| Ferritin H−/− | Embryonic lethal (early) | Not described | 85 |
| Ferritin H+/− | Elevated tissue and serum ferritin L | Not described | 85a |
| Cp−/− | Hepatocyte iron overloading | Acerulo-plasminemia | 123 |
| Macrophage iron overloading | |||
| Accelerated iron export | |||
| *DMTG185R | System iron disorder | Not described | 88 |
| Low iron uptake | |||
| *Heph(deletion) | Microcytic hypochromic anemia | Not described | 313 |
| Poor intestinal iron transport | |||
| IRP1−/− | Iron misregulation in kidney and brown fat | Not described | 200 |
| IRP2−/− | Iron accumulation in enterocytes, neurons, and oligodendrocytes | Not described | 175 |
| Neurodegeneration |
*
Spontaneous mouse mutation in hypotransferrinemia (hpx), microcytic anemia (mk) and sla mice, respectively. References cited identified causative mutation.
Animal models for iron regulation and disease associated with iron misregulation are summarized, including mutant genotype, phenotype, and associated human disease, as well as the reference that originally characterized the animal model.