Phenotypes Associated with This Genotype

Genotype
MGI:3044689

• Allelic Composition: Cp^tm1Hrs/Cp^tm1Hrs
• Genetic Background: involves: 129X1/SvJ * Black Swiss

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

Increase in storage iron content in Cp^tm1Hrs/Cp^tm1Hrs liver and spleen

homeostasis/metabolism

decreased circulating ceruloplasmin level ( J:57730 )

increased circulating ferritin level ( J:57730 )

• homozygotes showed elevated serum ferritin

abnormal liver copper level ( J:71807 )

• aceruloplasminemic mice showed normal copper gastrointestinal absorption, hepatic uptake, and biliary copper excretion

• the copper content of brain, heart, spleen, and kidney was normal, and homozygotes exhibited normal copper-zinc superoxide dismutase activity in these tissues

• notably, hepatic copper content was significantly elevated in aceruloplasminemic mice

abnormal iron homeostasis ( J:57730 )

• ferrokinetic studies showed normal rates of iron absorption, initial tissue iron distribution, and plasma iron turnover

• no differences were detected in cellular iron uptake; however, homozygotes displayed a significant impairment in hepatocyte iron efflux

abnormal iron level ( J:57730 )

• at 1 year of age, there was no evidence of diabetes, anemia, or neurological deficits despite iron accumulation in these sites

increased spleen iron level ( J:57730 )

• progressive accumulation of parenchymal iron, reaching a 3- to 6-fold increase in the iron content of the spleen by 1 year of age

• the spleen displayed normal cellular architecture with abundant iron in reticuloendothelial cells

increased liver iron level ( J:57730 , J:71807 )

• progressive accumulation of parenchymal iron, reaching a 3- to 6-fold increase in the iron content of the liver by 1 year of age (J:57730)

• the liver displayed normal cellular architecture with abundant iron in reticuloendothelial cells (J:57730)

• hepatic iron displayed a 3.5-fold increase in aceruloplasminemic mice due to loss of ferroxidase function (J:71807)

hematopoietic system

hematopoietic system phenotype ( J:57730 )

N • the hemoglobin concentration remained normal relative to wild-type

increased spleen iron level ( J:57730 )

• progressive accumulation of parenchymal iron, reaching a 3- to 6-fold increase in the iron content of the spleen by 1 year of age

• the spleen displayed normal cellular architecture with abundant iron in reticuloendothelial cells

liver/biliary system

abnormal liver copper level ( J:71807 )

• aceruloplasminemic mice showed normal copper gastrointestinal absorption, hepatic uptake, and biliary copper excretion

• the copper content of brain, heart, spleen, and kidney was normal, and homozygotes exhibited normal copper-zinc superoxide dismutase activity in these tissues

• notably, hepatic copper content was significantly elevated in aceruloplasminemic mice

increased liver iron level ( J:57730 , J:71807 )

• progressive accumulation of parenchymal iron, reaching a 3- to 6-fold increase in the iron content of the liver by 1 year of age (J:57730)

• the liver displayed normal cellular architecture with abundant iron in reticuloendothelial cells (J:57730)

• hepatic iron displayed a 3.5-fold increase in aceruloplasminemic mice due to loss of ferroxidase function (J:71807)

immune system

increased spleen iron level ( J:57730 )

• progressive accumulation of parenchymal iron, reaching a 3- to 6-fold increase in the iron content of the spleen by 1 year of age

• the spleen displayed normal cellular architecture with abundant iron in reticuloendothelial cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aceruloplasminemia		DOID:0050711	OMIM:604290	J:57730 , J:71807