Phenotypes associated with this allele

• Allele Symbol: Cp^tm1Samd
• Allele Name: targeted mutation 1, Samuel David
• Allele ID: MGI:2384067
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cp^tm1Samd/Cp^tm1Samd	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3852135

Genotype
MGI:3852135

hm1

• Allelic Composition: Cp^tm1Samd/Cp^tm1Samd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

homeostasis/metabolism

decreased circulating iron level ( J:78092 )

• 6.5 fold reduction in serum iron levels at 16 months

increased circulating unsaturated transferrin level ( J:78092 )

• lowered transferrin saturation

abnormal brain iron level ( J:78092 , J:112703 )

• total non-heme iron accumulation in the brainstem increased 103% (J:78092)

• total non-heme iron accumulation in the cerebellum increased 35% at 16 months (J:78092)

• total non-heme iron accumulation in the cervical spinal cord increased 116% (J:78092)

• total non-heme iron accumulation in the thoracic spinal cord increased 84% (J:78092)

• total non-heme iron accumulation in the retina increased 93% (J:78092)

• no iron accumulation in the cerebellum at 6 months (J:112703)

increased liver iron level ( J:78092 )

• 10.6 fold increase at 16 months

abnormal lipid homeostasis ( J:78092 )

• lipid peroxidation elevated by 84% in the olfactory bulb at 16 months

• lipid peroxidation elevated by 58% in the cervical spinal cord at 16 months

abnormal response to injury ( J:142344 )

• spinal cord contusion injury in 2-4 month old mice results in a 4.9 fold increase in iron levels at the site of injury compared to 3.2 fold for injured controls

nervous system

abnormal brain iron level ( J:78092 , J:112703 )

• total non-heme iron accumulation in the brainstem increased 103% (J:78092)

• total non-heme iron accumulation in the cerebellum increased 35% at 16 months (J:78092)

• total non-heme iron accumulation in the cervical spinal cord increased 116% (J:78092)

• total non-heme iron accumulation in the thoracic spinal cord increased 84% (J:78092)

• total non-heme iron accumulation in the retina increased 93% (J:78092)

• no iron accumulation in the cerebellum at 6 months (J:112703)

abnormal fourth ventricle morphology ( J:112703 )

• two fold increase in iron accumulation in cells adjacent to the lining of the fourth ventricle at 12 months

• 4.5 fold increase in iron accumulation in cells adjacent to the lining of the fourth ventricle at 24 months

abnormal cerebellar granule layer morphology ( J:78092 )

• iron deposition is particularly located in the granule cell layer and deep cerebellar nuclei

abnormal astrocyte morphology ( J:112703 )

• loss of astrocytes by 24 months of age

abnormal neuron morphology ( J:78092 )

abnormal Purkinje cell morphology ( J:112703 )

• loss of Purkinje cells by 12 to 24 months

• no iron accumulation in Purkinje cells

decreased motor neuron number ( J:142344 )

• motor neuron loss after spinal cord contusion is two fold greater near the site of injury than in injured controls

neuron degeneration ( J:78092 )

• loss of tyrosine hydroxylase positive dopamineric neurons in the brainstem by 16 months

• cultured cerebellar neurons display increased susceptibility to free radical damage when treated with lower concentrations of hydrogen peroxide

• free radical damage of cultured neurons offset by treatment with iron chelators

abnormal astrocyte physiology ( J:120651 )

• iron efflux of cultured astrocytes is about 5% as opposed to 70% for controls over a 48 hour period

demyelination ( J:142344 )

• 44% greater loss of myelin in white matter after spinal cord contusion than in injured controls

liver/biliary system

increased liver iron level ( J:78092 )

• 10.6 fold increase at 16 months

behavior/neurological

impaired coordination ( J:78092 )

• reduced ability of 16 month old homozygotes to maintain their balance on a rotarod

abnormal locomotor behavior ( J:142344 )

• locomotor function is significantly impaired 5 days after spinal cord contusion as compared to injured controls

vision/eye

abnormal retina inner nuclear layer morphology ( J:78092 )

• neurodegeneration in the inner nuclear layer of the retina by 16 months

cellular

increased cellular sensitivity to hydrogen peroxide ( J:78092 )

• cultured cerebellar neurons display increased susceptibility to free radical damage when treated with lower concentrations of hydrogen peroxide

• free radical damage of cultured neurons offset by treatment with iron chelators