Phenotypes Associated with This Genotype

Genotype
MGI:3775649

• Allelic Composition: Hfe^tm1.1Wsr/Hfe^tm1.1Wsr
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

homeostasis/metabolism

abnormal iron homeostasis ( J:141745 )

• mice have significantly lower unsaturated iron binding capacity compared to controls

decreased spleen iron level ( J:132134 )

• non-heme splenic iron levels are significantly reduced compared to littermate controls

increased circulating iron level ( J:132134 , J:132141 )

• plasma iron levels are significantly elevated compared to age and sex matched controls (J:132134)

• transferrin saturation is significantly elevated and the unsaturated iron binding capacity is significantly reduced (J:132134)

• serum transferring saturation at 10 weeks of age is 60.6% compared to 33.8% in wild-type controls (J:132141)

increased liver iron level ( J:132134 , J:132141 , J:141745 )

• iron accumulates in the parenchymal cells of the liver (J:132134)

• iron levels are 3- to 6- fold higher than in littermate controls (J:132134)

• liver iron content is 4 times higher than in wild-type controls at 10 weeks of age (J:132141)

• liver iron levels are more than three times higher than in controls (J:141745)

hemochromatosis ( J:132134 )

• symptoms in mice are consistent with hemocromatosis

hematopoietic system

decreased spleen iron level ( J:132134 )

• non-heme splenic iron levels are significantly reduced compared to littermate controls

immune system

decreased spleen iron level ( J:132134 )

• non-heme splenic iron levels are significantly reduced compared to littermate controls

liver/biliary system

increased liver iron level ( J:132134 , J:132141 , J:141745 )

• iron accumulates in the parenchymal cells of the liver (J:132134)

• iron levels are 3- to 6- fold higher than in littermate controls (J:132134)

• liver iron content is 4 times higher than in wild-type controls at 10 weeks of age (J:132141)

• liver iron levels are more than three times higher than in controls (J:141745)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 1		DOID:0111029	OMIM:235200	J:141745