Phenotypes Associated with This Genotype

Genotype
MGI:3839772

• Allelic Composition: Hfe^tm1Gfn/Hfe^tm1Gfn
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

growth/size/body

increased body weight ( J:262906 )

♂ • slight increase in body weight at 12 months of age, but not at 6 months

homeostasis/metabolism

abnormal iron homeostasis ( J:68025 )

• duodenal mucosa absorbs iron at a 2.6-fold greater rate than controls when fed a normal diet and 1.6-fold greater when fed an iron overload diet

abnormal iron level ( J:262906 )

♂ • significant deposition of iron in the bone trabeculae

increased spleen iron level ( J:68025 )

• spleen iron levels are about 2-fold higher than controls when mice are fed an iron-deficient diet

increased circulating iron level ( J:68025 )

• plasma iron is elevated with a concentration of 195 ug/100ml compared to 134 ug/100ml

• when iron overload is induced, plasma levels jump up to 276 ug/100ml compared to 171 ug/100ml in wild-type mice

• under iron overload conditions, transferrin saturation is significantly higher at 84% than 57% observed in wild-type mice

increased liver iron level ( J:68025 , J:262906 )

• liver iron levels are 3- to 4- fold higher than controls regardless if diet is normal, iron deficient, or overloaded with iron (J:68025)

• iron is predominately found in periportal hepatocytes (J:68025)

♂ • increase in hepatic iron concentration at 6 and 12 months of age (J:262906)

liver/biliary system

increased liver iron level ( J:68025 , J:262906 )

• liver iron levels are 3- to 4- fold higher than controls regardless if diet is normal, iron deficient, or overloaded with iron (J:68025)

• iron is predominately found in periportal hepatocytes (J:68025)

♂ • increase in hepatic iron concentration at 6 and 12 months of age (J:262906)

skeleton

increased osteoclast cell number ( J:262906 )

♂ • the number of osteoclasts is increased at 6 and 12 months

abnormal trabecular bone morphology ( J:262906 )

♂ • an increase in trabecular bone pattern factor and structure model index, parameters of trabecular organization

decreased trabecular bone volume ( J:262906 )

♂ • trabecular bone volume is lower at 6 and 12 months of age

decreased bone trabecula number ( J:262906 )

♂

decreased trabecular bone thickness ( J:262906 )

♂

osteoporosis ( J:262906 )

♂

immune system

increased osteoclast cell number ( J:262906 )

♂ • the number of osteoclasts is increased at 6 and 12 months

increased spleen iron level ( J:68025 )

• spleen iron levels are about 2-fold higher than controls when mice are fed an iron-deficient diet

hematopoietic system

increased osteoclast cell number ( J:262906 )

♂ • the number of osteoclasts is increased at 6 and 12 months

increased spleen iron level ( J:68025 )

• spleen iron levels are about 2-fold higher than controls when mice are fed an iron-deficient diet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 1		DOID:0111029	OMIM:235200	J:68025 , J:262906