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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ireb2tm1.1Eal
targeted mutation 1.1, Elizabeth A Leibold
MGI:5702744
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ireb2tm1.1Eal/Ireb2tm1.1Eal B6J.129-Ireb2tm1.1Eal MGI:5796139


Genotype
MGI:5796139
hm1
Allelic
Composition
Ireb2tm1.1Eal/Ireb2tm1.1Eal
Genetic
Background
B6J.129-Ireb2tm1.1Eal
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ireb2tm1.1Eal mutation (0 available); any Ireb2 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Iron accumulates in specific brain regions of Ireb2tm1.1Eal/Ireb2tm1.1Eal mice

hematopoietic system
• mild microcytic anemia at 49-71 weeks of age
• at 49-71 weeks of age
• at 49-71 weeks of age
• at 49-71 weeks of age
• at 49-71 weeks of age
• reduced platelet count at 49-71 weeks of age
• at 49-71 weeks of age

homeostasis/metabolism
• markedly increased serum ferritin levels at 49-71 weeks of age
• increased ferritin-L chain expression levels in brain (forebrain and cerebellum), liver, kidney and duodenum
• increased ferritin immunoreactivity in hippocampal CA1 pyramidal neurons and in neurons in the caudate putamen
• decreased transferrin receptor expression levels in brain, heart, liver and kidney
• normal ferritin immunoreactivity in Purkinje neurons
• normal Ferritin-L and transferrin receptor expression levels in spleen
• normal transferrin saturation, serum iron levels and total iron binding capacity at 49-71 weeks of age
• altered body iron distribution at 49-71 weeks of age
• however, total iron content remains normal in lung and brain tissue
• decreased total iron content in heart at 49-71 weeks of age
• increased total iron content in duodenum at 49-71 weeks of age
• significantly reduced iron content in hippocampal CA1 pyramidal neurons and in Purkinje neurons at 46-53 weeks of age
• marked ferric iron deposition in the cortex, caudate putamen, thalamus, superior colliculus and cerebellum as well as in other brain regions at 38-45 weeks of age
• however, no increased iron deposition in the substantia nigra
• increased total iron content in kidney at 49-71 weeks of age
• increased total iron content in liver at 49-71 weeks of age
• males show increased levels of serum and liver protoporphyrin IX (PPIX) and PPIX-containing aggregates in the cystic, hepatic, and common bile ducts at 12 months of age
• PPIX-containing granules are found in the common bile duct in all males and females at 2.5- to 18-months of age
• erythropoietic protoporphyria at 49-71 weeks of age

behavior/neurological
N
• no tremors or abnormal gait are observed at 45-63 weeks of age
• normal grip strength (2-paws and 4-paws) at 38-45 weeks of age
• slighty reduced mean latency to fall off an accelerating rotarod at 38-45 weeks, but not 20 weeks of age, suggesting progressive impairment of motor coordination
• decreased vertical exploratory activity (rearing frequency and latency) at 38-45 weeks of age, as assessed by the modified-Hole Board test
• decreased horizontal locomotor activity (total distance traveled, number of turns, number of total line crossings, mean velocity and angular velocity) at 38-45 weeks of age, as assessed by the modified-Hole Board test
• increased hind paw licking (second pain reaction) on the hot plate test at 20 weeks of age or later
• however, hind paw shaking (first pain reaction) is normal

nervous system
N
• no pathological alterations or signs of neurodegeneration are seen in the caudate putamen, substantia nigra, cortex, cerebellum, hippocampus or hypothalamus at 46-53 weeks of age
• age-related lipofuscin accumulation and axon myelinization appear normal
• significantly reduced iron content in hippocampal CA1 pyramidal neurons and in Purkinje neurons at 46-53 weeks of age
• marked ferric iron deposition in the cortex, caudate putamen, thalamus, superior colliculus and cerebellum as well as in other brain regions at 38-45 weeks of age
• however, no increased iron deposition in the substantia nigra
• significant iron deposition in the corpus callosum at 38-45 weeks of age
• significant iron deposition in cerebellar white matter and oligodendrocytes associated with white matter at 38-45 weeks of age
• significant iron deposition in the superior colliculus at 38-45 weeks of age
• significant iron deposition in the caudate putamen at 38-45 weeks of age
• increased ferritin immunoreactivity in neuronal cell bodies in the caudate putamen
• significant iron deposition in the thalamus at 38-45 weeks of age
• significantly reduced iron content in hippocampal CA1 pyramidal neuronal soma at 46-53 weeks of age
• increased ferritin immunoreactivity in hippocampal CA1 pyramidal neuronal cell bodies
• significant iron accumulation in oligodendrocytes (small cells with an eccentric nucleus) and in axons at 38-45 weeks of age
• slight but significant reduction in iron content in Purkinje neuronal soma at 46-53 weeks of age
• however, no alterations in ferritin immunoreactivity, Purkinje cell morphology or cell number are observed
• significant iron deposition in oligodendrocytes in the cerebral cortex, in oligodendrocytes associated with white matter, in oligodendrocyte soma associated with striosomes as well as in oligodendrocytes scattered throughout the caudate putamen at 38-45 weeks of age
• significant iron accumulation in axons in the cerebral cortex, caudate putamen, superior colliculus, and cerebellum at 38-45 weeks of age
• significantly reduced iron content in the apical dendrites of CA1 pyramidal neurons at 46-53 weeks of age

integument
• increased hind paw licking (second pain reaction) on the hot plate test at 20 weeks of age or later
• however, hind paw shaking (first pain reaction) is normal

liver/biliary system
• increased total iron content in liver at 49-71 weeks of age

renal/urinary system
• increased total iron content in kidney at 49-71 weeks of age

digestive/alimentary system
• increased total iron content in duodenum at 49-71 weeks of age

cardiovascular system
• decreased total iron content in heart at 49-71 weeks of age

skeleton
N
• no kyphosis is observed at 45-63 weeks of age





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
12/03/2019
MGI 6.14
The Jackson Laboratory