Phenotypes Associated with This Genotype

Genotype
MGI:3700665

• Allelic Composition: Slc40a1^ffe/Slc40a1⁺
• Genetic Background: either: (involves: 129X1/SvJ * C57BL/6J) or (involves: C3H/HeJ * C57BL/6J)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

increased circulating ferritin level ( J:118592 )

• serum ferritin levels are increased 10-fold compared to wild-type mice at 6 months of age and levels continue to increase with age

increased circulating unsaturated transferrin level ( J:118592 )

• at 6 months of age transferrin saturation in serum is much lower than in wild-type mice

increased liver iron level ( J:118592 )

• aged mice accumulate high levels of iron in Kupffer cells

hematopoietic system

anemia ( J:118592 )

• mild anemia

abnormal erythrocyte morphology ( J:118592 )

decreased mean corpuscular hemoglobin ( J:118592 )

• some hypochromic red cells are present in blood smears

anisocytosis ( J:118592 )

• some hypochromic red cells with variable size are present in blood smears

leptocytosis ( J:118592 )

• some target cells are present in blood smears

abnormal macrophage physiology ( J:118592 )

• iron loaded macrophages are not able to export iron as efficiently as wild-type cells

immune system

abnormal macrophage physiology ( J:118592 )

• iron loaded macrophages are not able to export iron as efficiently as wild-type cells

liver/biliary system

increased liver iron level ( J:118592 )

• aged mice accumulate high levels of iron in Kupffer cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 4		DOID:0111028	OMIM:606069	J:118592