Table 3.

Phenotypes of Animals With Mutations in Genes Critical for Iron Homeostasis During Development

Gene	Functions	Phenotype	Reference
		Hypochromic, microcytic anemia, defective erythropoiesis
Dmt1	Iron transporter (Slc11a2)
	in Slc11a2b Belgrade rat		(Touret et al., 2004)
	in Slc11a2mk microcytic anemia mouse		(Touret et al., 2004)
	in Slc11a2−/− null mouse		(Gunshin et al., 2005)
	in zebrafish Chardonnay		(Donovan et al., 2002)
Fpn	iron efflux in zebrafish Weisshergst		(Donavan et al., 2000)
Heph	Iron oxidase in sex-linked anemia mouse		(reviewed by Andrews, 2000)
Mtfrn	Mitochondrial iron importer in zebrafish		(Shaw et al., 2006)
	Frascati and null mouse ES cells
Steap3	Endosomal ferric/cupric reductase in null mouse and nm1054 mouse		(Ohgami et al., 2005)
Tf	Serum iron carrier in Hpx mouse		(reviewed by Andrews, 2000)
Tfr1	Transferrin receptor for iron uptake in zebrafish Chianti		(Wingert et al., 2004)
		Impaired embryonic development
Abcb7	Mitochondrial efflux of Fe-S substrate	Embryonic lethal ~ E6.5 in null mouse, extraembryonic defect	(Pondarre et al., 2006)
Fpn	Iron efflux	Embryonic lethal ~ E7.5 in null mouse, visceral endoderm defect	(Donovan et al., 2005)
		Hypomorphic allele, midgestation lethal, neurogenesis defects in Flatiron mouse	(Zohn et al., 2007)
Fxn	Fe-S cluster assembly	Embryonic lethal 3E5–E7 in null mouse (early postimplantation)	(Cossee, et al., 2000)
Fth1	Iron storage	Embryonic lethal (3E3.5–E9.5) in null mouse, defective heart development	(Ferreira, et al., 2000)
Irp1 + Irp2	Posttranscriptional regulation	Embryonic lethal blastocyst stage in double null mouse, iron overload	(Smith et al., 2004, 2006)
Tfr1	Endocytic uptake of iron in mouse	Embryonic lethal 3E12.5 in null mouse, impaired CNS, and erythroid development	(Levy et al., 1999)