Phenotypes associated with this allele

• Allele Symbol: Ireb2^tm1Roua
• Allele Name: targeted mutation 1, Tracey Rouault
• Allele ID: MGI:2181660
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ireb2^tm1Roua/Ireb2^tm1Roua	B6.Cg-Ireb2^tm1Roua	MGI:5295294
hm2	Ireb2^tm1Roua/Ireb2^tm1Roua	involves: C57BL/6	MGI:3584280
cx3	Fbxl5^tm1Kei/Fbxl5^tm1Kei Ireb2^tm1Roua/Ireb2^tm1Roua	B6.129-Fbxl5^tm1Kei Ireb2^tm1Roua	MGI:5295293

Genotype
MGI:5295294

hm1

• Allelic Composition: Ireb2^tm1Roua/Ireb2^tm1Roua
• Genetic Background: B6.Cg-Ireb2^tm1Roua

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

hematopoietic system

decreased hematocrit ( J:176655 )

decreased hemoglobin content ( J:176655 )

decreased mean corpuscular hemoglobin ( J:176655 )

decreased mean corpuscular hemoglobin concentration ( J:176655 )

decreased mean corpuscular volume ( J:176655 )

microcytosis ( J:176655 )

decreased spleen iron level ( J:176655 )

• decrease in nonheme iron

homeostasis/metabolism

decreased spleen iron level ( J:176655 )

• decrease in nonheme iron

increased liver iron level ( J:176655 )

• increase in nonheme iron

immune system

decreased spleen iron level ( J:176655 )

• decrease in nonheme iron

liver/biliary system

increased liver iron level ( J:176655 )

• increase in nonheme iron

Genotype
MGI:3584280

hm2

• Allelic Composition: Ireb2^tm1Roua/Ireb2^tm1Roua
• Genetic Background: involves: C57BL/6

homeostasis/metabolism

increased circulating ferritin level ( J:67313 )

• serum ferritins significantly elevated at 6 and 9 months of age and elevated at 12 months of age

• hematocrit, serum iron, transferring, serum ceruloplasmin, creatine phosphokinase all normal

abnormal iron homeostasis ( J:87889 )

• ferritins not repressed in liver, kidney, and brown fat on a low iron diet

• marked elevation of ferritin in the cerebellum regardless of diet

increased intestine iron level ( J:67313 )

• increased iron in the duodenum

increased brain iron level ( J:67313 )

• iron accumulation in cerebellum precedes and co-localizes with axonal degeneration

• iron accumulation in neuronal bodies of gray matter of thalamus, deep cerebellar nuclei, and colliculi

increased liver iron level ( J:67313 )

behavior/neurological

tremors ( J:67313 )

impaired balance ( J:67313 )

• severely impaired balance

decreased grip strength ( J:67313 )

• severely impaired

abnormal posture ( J:67313 )

abnormal locomotor behavior ( J:67313 )

ataxia ( J:67313 )

• gradual onset of ataxia after 6 months of age

abnormal gait ( J:67313 )

• unsteady, wide based gait from about 6 months of age on

bradykinesia ( J:67313 )

skeleton

kyphosis ( J:67313 )

• subtle kyphosis develops after 6 months of age

nervous system

increased brain iron level ( J:67313 )

• iron accumulation in cerebellum precedes and co-localizes with axonal degeneration

• iron accumulation in neuronal bodies of gray matter of thalamus, deep cerebellar nuclei, and colliculi

abnormal corpora quadrigemina morphology ( J:67313 )

• iron accumulation in neuronal bodies of the gray matter

• neurons show loss of nuclear membrane definition, nuclear shrinkage, formation of cytoplasmic vacuoles

abnormal thalamus morphology ( J:67313 )

• iron accumulation in neuronal bodies of the gray matter

• neurons show loss of nuclear membrane definition, nuclear shrinkage, formation of cytoplasmic vacuoles

abnormal cerebellum morphology ( J:67313 )

• iron accumulation in cerebellum precedes and co-localizes with axonal degeneration

Purkinje cell degeneration ( J:67313 )

• remaining cells show signs of degeneration

decreased Purkinje cell number ( J:67313 )

• partial loss of Purkinje cells

liver/biliary system

liver/biliary system phenotype ( J:67313 )

N • liver function was unexpectedly normal

increased liver iron level ( J:67313 )

hearing/vestibular/ear

abnormal vestibular system physiology ( J:67313 )

• vestibular dysfunction

digestive/alimentary system

increased intestine iron level ( J:67313 )

• increased iron in the duodenum

Genotype
MGI:5295293

cx3

• Allelic Composition: Fbxl5^tm1Kei/Fbxl5^tm1Kei; Ireb2^tm1Roua/Ireb2^tm1Roua
• Genetic Background: B6.129-Fbxl5^tm1Kei Ireb2^tm1Roua

mortality/aging

mortality/aging ( J:176655 )

N • unlike mice homozygous for the Fbxl5 mutation alone, double homozygous mice are viable

homeostasis/metabolism

increased circulating iron level ( J:176655 )

decreased circulating unsaturated transferrin level ( J:176655 )

• elevated transferrin saturation

decreased liver iron level ( J:176655 )

• compared to mice homozygous for the Ireb2 mutation alone

hematopoietic system

decreased hematocrit ( J:176655 )

decreased hemoglobin content ( J:176655 )

decreased mean corpuscular hemoglobin ( J:176655 )

decreased mean corpuscular hemoglobin concentration ( J:176655 )

decreased mean corpuscular volume ( J:176655 )

microcytosis ( J:176655 )

liver/biliary system

decreased liver iron level ( J:176655 )

• compared to mice homozygous for the Ireb2 mutation alone