Phenotypes Associated with This Genotype

Genotype
MGI:3033466

• Allelic Composition: Hfe^tm2Sly/Hfe^tm2Sly
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

homeostasis/metabolism

abnormal brain iron level ( J:213886 )

• total brain iron levels are elevated in 18- and 24-month old mice

increased liver iron level ( J:88143 )

• increased hepatic iron concentrations observed in females and males, however the increase was only statistically significant in females

• the increase was less than that observed in Hfe^tm3Sly (C294Y) homozygotes

• iron has a predominantly periportal distribution

decreased brain cholesterol level ( J:213886 )

• reduction in total cholesterol levels in the brain of aging mice

behavior/neurological

abnormal object recognition memory ( J:213886 )

• 24 month old mice exhibit poorer recollection of familiar objects presented in a novel location

impaired spatial learning ( J:213886 )

• 18 and 24 month old mice show a decline in spatial learning ability in the Barns maze

abnormal spatial reference memory ( J:213886 )

• 18 and 24 month old mice show an increase in mean latency to find the escape hole during the probe trial, an increase in the distance traveled to find and enter the escape hole, and make more errors, indicating impaired spatial memory

abnormal spatial working memory ( J:213886 )

• 18 and 24 month old mice show an increase in primary latency and total latency to find the escape hole and make more errors in the Barns maze during acquisition trials

• males at 24 months of age take significantly longer to find the escape hole than females

abnormal response to novel object ( J:213886 )

• 14 and 24 month old mice exhibit an approximate 30% decrease in preference for the novel object, indicating poorer memory retention

• females at 24 months of age perform more poorly than males in the novel object recognition test

liver/biliary system

increased liver iron level ( J:88143 )

• increased hepatic iron concentrations observed in females and males, however the increase was only statistically significant in females

• the increase was less than that observed in Hfe^tm3Sly (C294Y) homozygotes

• iron has a predominantly periportal distribution

nervous system

abnormal brain iron level ( J:213886 )

• total brain iron levels are elevated in 18- and 24-month old mice

decreased brain cholesterol level ( J:213886 )

• reduction in total cholesterol levels in the brain of aging mice

abnormal brain size ( J:213886 )

• 6.5% decrease in total volume of brains at 22 months of age

decreased brain weight ( J:213886 )

• total weight of brain is less than in wild-type mice at 22 months of age

enlarged brain ventricles ( J:213886 )

• 57% increase in brain ventricle size at 22 months of age

decreased corpus callosum size ( J:213886 )

• 22% decrease in volume of the medial corpus callosum at 22 months of age

neuron degeneration ( J:213886 )

• marker analysis indicates an increase in neuronal loss at 22 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemochromatosis type 1		DOID:0111029	OMIM:235200	J:88143