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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cptm1Samd
targeted mutation 1, Samuel David
MGI:2384067
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cptm1Samd/Cptm1Samd involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3852135


Genotype
MGI:3852135
hm1
Allelic
Composition
Cptm1Samd/Cptm1Samd
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cptm1Samd mutation (0 available); any Cp mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 6.5 fold reduction in serum iron levels at 16 months
• lowered transferrin saturation
• 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)
• 10.6 fold increase at 16 months
• 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
• 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
• 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)
• 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
• iron deposition is particularly located in the granule cell layer and deep cerebellar nuclei
• loss of astrocytes by 24 months of age
• no iron accumulation in Purkinje cells
• loss of Purkinje cells by 12 to 24 months
• motor neuron loss after spinal cord contusion is two fold greater near the site of injury than in injured controls
• 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
• iron efflux of cultured astrocytes is about 5% as opposed to 70% for controls over a 48 hour period
• 44% greater loss of myelin in white matter after spinal cord contusion than in injured controls

liver/biliary system
• 10.6 fold increase at 16 months

behavior/neurological
• reduced ability of 16 month old homozygotes to maintain their balance on a rotarod
• locomotor function is significantly impaired 5 days after spinal cord contusion as compared to injured controls

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

cellular
• 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





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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
11/19/2024
MGI 6.24
The Jackson Laboratory