Phenotypes Associated with This Genotype

Genotype
MGI:2655482

• Allelic Composition: Hfe^tm2Nca/Hfe^tm2Nca
• Genetic Background: involves: 129S6/SvEvTac

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

homeostasis/metabolism

abnormal iron level ( J:78536 )

• Background Sensitivity: iron loading occurred more rapidly on a 129S6/SvEvTac background than on a mixed background

decreased spleen iron level ( J:78536 )

• decreased splenic iron loading

increased circulating iron level ( J:133221 )

• significant increase in occupancy of serum transferrin with iron

increased liver iron level ( J:62112 , J:133221 )

• increased hepatic iron loading (J:62112)

• increase in liver non-heme iron levels (J:133221)

• deposition of iron is predominantly periportal (J:133221)

• however, at 8 weeks of age no increase in heart iron load is detected compared to wild-type controls (J:133221)

hematopoietic system

decreased spleen iron level ( J:78536 )

• decreased splenic iron loading

immune system

decreased spleen iron level ( J:78536 )

• decreased splenic iron loading

liver/biliary system

increased liver iron level ( J:62112 , J:133221 )

• increased hepatic iron loading (J:62112)

• deposition of iron is predominantly periportal (J:133221)

• increase in liver non-heme iron levels (J:133221)

• however, at 8 weeks of age no increase in heart iron load is detected compared to wild-type controls (J:133221)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 1		DOID:0111029	OMIM:235200	J:62112 , J:78536