Phenotypes Associated with This Genotype

Genotype
MGI:3702021

• Allelic Composition: Hamp^tm1Svl/Hamp^tm1Svl
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

growth/size/body

weight loss ( J:119004 )

• mice show a statistical loss of body weight starting at 8 months

hematopoietic system

abnormal erythrocyte morphology ( J:119004 )

• hematologic parameters are slightly increased during the first months of life, but return to normal values at 6 months

decreased spleen iron level ( J:119004 )

• iron content in spleen is markedly decreased vs wild-type

• at 8 months, splenic iron levels are decreased about 3-fold (273 ug/ g tissue vs 784 ug/g in wild-type)

homeostasis/metabolism

decreased spleen iron level ( J:119004 )

• iron content in spleen is markedly decreased vs wild-type

• at 8 months, splenic iron levels are decreased about 3-fold (273 ug/ g tissue vs 784 ug/g in wild-type)

abnormal circulating iron level ( J:119004 )

• serum iron increases at 2 months in mutants and remains constant

increased circulating ferritin level ( J:119004 )

• serum ferritin levels increase in parallel to liver iron increase

hemosiderosis ( J:119004 )

• at 4 months of age, massive iron accumulation is observed in liver and pancreas of mutants; significant iron is detected in the heart compared to wild-type

• iron accumulates in liver parenchymal cells (hepatocytes) with sparing of the macrophages; iron deposition is more prominent in the centrolobular areas

• liver iron content is elevated 5-fold in mutants at 2 months of age, while at 8 months, liver iron is increased ~15-fold over controls

• at 8 months, mutants have ~30-fold increase in pancreatic iron content (2056 ug/g tissue vs 66 ug/g tissue in wild-type)

• at 8 months of age, heart iron content is 5.5-fold higher in mutants (513 ug/g) compared to controls (92 ug/g)

immune system

decreased spleen iron level ( J:119004 )

• iron content in spleen is markedly decreased vs wild-type

• at 8 months, splenic iron levels are decreased about 3-fold (273 ug/ g tissue vs 784 ug/g in wild-type)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 2B		DOID:0111032	OMIM:613313	J:119004