Phenotypes Associated with This Genotype

Genotype
MGI:5607261

• Allelic Composition: Slc40a1^tm1.1Mmfe/Slc40a1⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

homeostasis/metabolism

increased circulating ferritin level ( J:215585 )

• young adults exhibit high transferrin saturation and a marked increase in serum ferritin levels

decreased circulating unsaturated transferrin level ( J:215585 )

abnormal enzyme/coenzyme level ( J:215585 )

• increase in amylase and elastase levels but lower than in homozygotes

increased circulating lipase level ( J:215585 )

• increase in plasma lipase levels but lower than in homozygotes

abnormal iron homeostasis ( J:215585 )

increased pancreas iron level ( J:215585 )

• iron accumulation in the exocrine pancreas, but to a smaller extent than in homozygotes

decreased spleen iron level ( J:215585 )

• decrease in splenic iron levels at 8 and 24 weeks of age

• selective iron depletion is seen within iron-recycling macrophages of the red pulp

increased circulating iron level ( J:215585 )

increased liver iron level ( J:215585 )

hematopoietic system

decreased spleen iron level ( J:215585 )

• decrease in splenic iron levels at 8 and 24 weeks of age

• selective iron depletion is seen within iron-recycling macrophages of the red pulp

cellular

oxidative stress ( J:215585 )

• oxidative stress in the pancreas but less than in homozygotes

endocrine/exocrine glands

increased pancreas iron level ( J:215585 )

• iron accumulation in the exocrine pancreas, but to a smaller extent than in homozygotes

immune system

decreased spleen iron level ( J:215585 )

• decrease in splenic iron levels at 8 and 24 weeks of age

• selective iron depletion is seen within iron-recycling macrophages of the red pulp

liver/biliary system

increased liver iron level ( J:215585 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 4		DOID:0111028	OMIM:606069	J:215585