Table 1. Phenotype of mice with a single... | American Society of Hematology

Table 1.

Phenotype of mice with a single knockout of key players in liver iron sensing

Single mutant	Hepcidin	Liver iron	Extrahepatic iron loading	Anemia	References
Ligand
Bmp6	↓↓↓	↑↑↑↑	Yes (M>F)	No	64,65,77,90
Bmp2*	↓↓↓	↑↑↑↑	Yes (M>F)	No	66,67
Cell membrane–sensing molecules and receptors
Hjv	↓↓↓	↑↑↑↑	Yes (M>F)	No	47,90
Hfe or β2m	↓	↑↑	No	No	107
Tfr2	↓↓	↑↑↑	No	No	107
Alk2†	↓	↑	n/a	No	68
Alk3†	↓↓↓	↑↑↑↑	n/a	No	68
Acvr2a or Bmpr2†	→	→	n/a	No	69
Tmprss6	↑	↓	No	Yes	109,112
Neogenin	↓	↑↑	n/a	No	76
Intracellular molecules
Smad1 or Smad5†	12 d ↓	→	n/a	No	70
Smad1 or Smad5†	Adult→	→	n/a	No	70
Smad4†	↓↓↓	↑↑↑↑	Yes‡	No	63
Smad7†	↑	↓	n/a	Yes	71

Single mutant	Hepcidin	Liver iron	Extrahepatic iron loading	Anemia	References
Ligand
Bmp6	↓↓↓	↑↑↑↑	Yes (M>F)	No	64,65,77,90
Bmp2*	↓↓↓	↑↑↑↑	Yes (M>F)	No	66,67
Cell membrane–sensing molecules and receptors
Hjv	↓↓↓	↑↑↑↑	Yes (M>F)	No	47,90
Hfe or β2m	↓	↑↑	No	No	107
Tfr2	↓↓	↑↑↑	No	No	107
Alk2†	↓	↑	n/a	No	68
Alk3†	↓↓↓	↑↑↑↑	n/a	No	68
Acvr2a or Bmpr2†	→	→	n/a	No	69
Tmprss6	↑	↓	No	Yes	109,112
Neogenin	↓	↑↑	n/a	No	76
Intracellular molecules
Smad1 or Smad5†	12 d ↓	→	n/a	No	70
Smad1 or Smad5†	Adult→	→	n/a	No	70
Smad4†	↓↓↓	↑↑↑↑	Yes‡	No	63
Smad7†	↑	↓	n/a	Yes	71

Levels of hepcidin expression and tissue iron loading are subject to variation based on background strains, ages, and analytical variations in different studies.

F, female; M, male; n/a, data not available.

Endothelial conditional knockout.

†

Hepatocyte conditional knockout.

‡

Study did not indicate sex of mice used.

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