growth/size/body
weight loss
(
J:119004
)
• mice show a statistical loss of body weight starting at 8 months
|
hematopoietic system
• hematologic parameters are slightly increased during the first months of life, but return to normal values at 6 months
|
• 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
• 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)
|
• serum iron increases at 2 months in mutants and remains constant
|
• serum ferritin levels increase in parallel to liver iron increase
|
• 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
• 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 |