Phenotypes Associated with This Genotype

Genotype
MGI:3588420

• Allelic Composition: Hjv^tm1Nca/Hjv^tm1Nca
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac

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

Histological examination of iron loading in Hjv^tm1Nca/Hjv^tm1Nca mice

mortality/aging

mortality/aging ( J:100178 )

N • no pre-natal lethality detected

homeostasis/metabolism

abnormal iron homeostasis ( J:100178 )

• greatly increased expression of ferroportin at the basolateral membrane of intestinal villi detected by immunohistochemistry

• decreased expression of hepatic hepcidin detected by northern blot analysis

abnormal iron level ( J:100178 )

• at 6 to 7 weeks of age non-heme iron is increased in the pancreas and testis

• histology shows increased iron in the exocrine and endocrine pancreas, a subset of anterior pituitary, and arteriolar endothelial cells of the testis, but no iron accumulation in splenic macrophages

decreased spleen iron level ( J:100178 )

• decrease in splenic non-heme iron

increased circulating iron level ( J:100178 )

• at 6 to 7 weeks of age serum transferrin saturation is close to 100%

increased kidney iron level ( J:100178 )

• at 6 to 7 weeks of age non-heme iron is increased in the kidney

• histology shows increased iron in distal tubules of the kidney

increased liver iron level ( J:100178 )

• at 6 to 7 weeks of age there is a 20 fold increase in non-heme iron in the liver

• histology shows pericanicular accumulation of iron in liver parenchymal cells

hemochromatosis ( J:100178 )

• phenotypically similar to juvenile hemochromatosis in human, but without the hepatic fibrosis, cardiomyopathy, diabetes, or infertility.

hematopoietic system

hematopoietic system phenotype ( J:100178 )

N • normal hemoglobin levels

decreased spleen iron level ( J:100178 )

• decrease in splenic non-heme iron

reproductive system

reproductive system phenotype ( J:100178 )

N • normal fertility in both females and males

immune system

decreased spleen iron level ( J:100178 )

• decrease in splenic non-heme iron

liver/biliary system

increased liver iron level ( J:100178 )

• at 6 to 7 weeks of age there is a 20 fold increase in non-heme iron in the liver

• histology shows pericanicular accumulation of iron in liver parenchymal cells

renal/urinary system

increased kidney iron level ( J:100178 )

• at 6 to 7 weeks of age non-heme iron is increased in the kidney

• histology shows increased iron in distal tubules of the kidney

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 2A		DOID:0111027	OMIM:602390	J:100178