Phenotypes Associated with This Genotype

Genotype
MGI:3588579

• Allelic Composition: Hjv^tm1Arbr/Hjv^tm1Arbr
• Genetic Background: involves: 129S4/SvJae * 129X1/SvJ

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

Iron accumulation in Hjv^tm1Arbr/Hjv^tm1Arbr mutant mice

endocrine/exocrine glands

increased pancreas iron level ( J:100173 )

• at 2.5 months of age, homozygotes display a large accumulation of iron in the pancreas

mortality/aging

mortality/aging ( J:100173 )

N • no change in lifespan detected up to 15 months of age

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:100173 )

N • no evidence of diabetes, cardiomyopathy, or other hemochromatosis-associated pathology

abnormal iron homeostasis ( J:100173 )

• northern blot analysis on liver extracts shows high expresion of ferroportin in untreated homozygotes and this is downregulated by LPS injection

• northern blot analysis on liver extracts fails to detect hepcidin expresssion at 1.5 days or 90 days of age when it is normally expressed; normal induction of hepcidin by dietary or injected iron fails to occur in homozygotes, but hepcidin expression is induced by immunologic stimuli

increased heart iron level ( J:100173 )

• at 2.5 months of age, homozygotes display a large accumulation of iron in the heart

increased pancreas iron level ( J:100173 )

• at 2.5 months of age, homozygotes display a large accumulation of iron in the pancreas

decreased spleen iron level ( J:100173 )

• spleen shows reduced iron content relative to wild-type mice

increased liver iron level ( J:100173 )

• at 2.5 months of age, homozygotes display a large accumulation of iron in the liver; time course evaluation shows that this accumulation in liver begins by 30 days of age and plateaus by 4 months of age

hemochromatosis ( J:100173 )

reproductive system

male infertility ( J:100173 )

♂ • males sterile but no indication of hypogonadism

cardiovascular system

increased heart iron level ( J:100173 )

• at 2.5 months of age, homozygotes display a large accumulation of iron in the heart

hematopoietic system

decreased spleen iron level ( J:100173 )

• spleen shows reduced iron content relative to wild-type mice

immune system

decreased spleen iron level ( J:100173 )

• spleen shows reduced iron content relative to wild-type mice

liver/biliary system

increased liver iron level ( J:100173 )

• at 2.5 months of age, homozygotes display a large accumulation of iron in the liver; time course evaluation shows that this accumulation in liver begins by 30 days of age and plateaus by 4 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 2A		DOID:0111027	OMIM:602390	J:100173