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. 2014 Mar 10;20(8):1324–1363. doi: 10.1089/ars.2012.4931

Table 1.

Mouse Models and Corresponding Human Disorders of Iron Metabolism

Gene Mouse model Iron phenotype Human disease parallel Reference
Abcb7 Abcb7−/− Siderocytosis X-linked sideroblastic anemia (153)
  Abcb7E433K      
Aco1 Irp1−/− NA Cardiac problems (163)
Alas2 Alas2−/− Increased iron in primitive erythroid cells X-linked sideroblastic anemia (153)
Beta-2 microglobulin B2m−/− Parenchymal iron deposition; decreased hepcidin ND (382)
Bmp6 Bmp6−/− Increased body iron; decreased hepcidin ND (16, 304)
Ceruloplasmin Cp−/− Iron accumulation in hepatocytes and macrophages Aceruloplasminemia (189, 211, 341)
DMT1 (G185R) mk (missense) Systemic iron deficiency; impaired iron uptake from the duodenum and by erythroid precursors ND (52, 151, 320)
  Belgrade rat      
Duodenal cytochrome B Cybrd1−/− Little impact ND (153)
Feline leukemia virus receptor Flvcr−/− Macrocytic anemia ND (153)
Ferrochelatase FECHm1Pas Microcytic hypochromic anemia & severe porphyria ND (279)
  FECH−/− Homozygous state is embryonic lethal; Heterozygotes have decreased FECH activity and mild porphyria ND (284)
Ferroportin Slc40a1 (missense) Iron loading of Kupffer cells, high serum ferritin, low transferrin saturation ND (153)
  Fpn−/− Increased iron absorption and overload Hfe4 hemochromatosis (124)
Frataxin Fxn−/− with human mutant Fxn YAC constructs Mitochondrial iron deposits; neurodegeneration; cardiomyopathy; embryonic lethal Friedreich's ataxia (10, 153)
  Fxn−/− Embryonic lethal NA (153)
H-ferritina Fth+/− Elevated tissue and serum L-ferritin ND (147, 428)
Haptoglobin Hp−/− Increased export of iron from duodenum to plasma ND (270, 293)
Heme oxygenase 1 Hmox1−/− Anemia; low serum iron; tissue iron deposition Hmox 1 deficiency (354)
Hemojuvelin Hjv−/− Increased body iron, decreased hepcidin ND (153)
Hemopxin Hx−/− Increased CNS iron ND (153)
Hepcidin HAMP (transgene) Iron deficiency; Anemia NA (261)
Hepcidinb Usf2−/− Hepatocellular iron accumulation; decreased macrophage iron; increased Tf saturation Juvenile hemochromatosis (321)
Hepcidin/HFE Hfe−/− Amelioration of hepatic iron loading relative to Hfe−/− mice; increased body iron; decreased hepcidin NA (321)
  HfeC282Y/C282      
  HFEH63D/H63D      
Hephaestin sla (deletion) Microcytic hypochromic anemia; impaired iron transfer from the duodenum ND (447)
Hfe Hfe−/− Hepatocellular iron accumulation; decreased macrophage iron; increased Tf saturation Hfe hemochromatosis (484)
  HfeC282Y/C282Yc      
Irp2 Irp2−/− Microcytic anemia; duodenal and hepatic iron loading Pulmonary disease (89, 163)
Mitoferrin 1 Mfrn1−/− Severe anemia ND (153)
Sec1511 Hbd Deficiency in Tf cycling ND (464)
Slc25a37 Mfrn1−/− Embryonic lethal with profound anemia Tumors or cancer of the prostate (81)
Smad4 Smad4−/− (liver specific) Increased body iron; decreased hepcidin ND (452)
Steap3 Steap3−/− Congenital, hypochromic, microcytic anemia; elevated red cell zinc protoporphyrin; functional erythroid iron deficiency; Impaired ferriereductase activity ND (153, 279, 327)
  Nm1054 (deletion)      
Tmprss6 (matriptase-2) Tmprss6−/− Microcytic anemia; low iron stores; low serum iron; increased hepcidin ND (128)
  Tmprss6msk/msk      
Transferrin Hpx Microcytic hypochromic anemia; tissue iron deposition Atransferrinemia (434)
Transferrin receptor-1d TfR+/− Microcytic hypochromic erythrocytes; decreased iron stores; embryonic death ND (264)
Transferrin receptor-2 TfRr2246x/246 Hepatocellular iron accumulation; decreased macrophage iron; increased Tf saturation TfR2 hemochromatosis (125, 152, 222)
  TfR2−/−      
Transferrin Tfhpx/hpx Severe anemia, iron overload Congenital hypotransferrinemia (153)
a

Fth−/− mice: early embryonic lethality.

b

Includes deletion of gene for upstream stimulatory factor-2.

c

Mutation is in mouse codon 294.

d

Tf−/− mice: embryonic lethal by E 12.5.

ND, not described; NA, not applicable; BMP, bone morphogenetic protein; Cp, ceruloplasmin; DMT1, divalent metal transporter 1; FECH, ferrochelatase; Fxn, frataxin; HFE, hereditary hemochromatosis gene product; Hp, hephaestin; Hpx, hemopexin; Irp1/Irp2, iron regulatory proteins 1 and 2; Tf, transferrin; TfR, transferrin receptor.

HHS Vulnerability Disclosure