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| Nomenclature |
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Symbol:
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Sod2tm1Cje
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Name:
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superoxide dismutase 2, mitochondrial;
targeted mutation 1, Charles J Epstein
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MGI ID: |
MGI:1857344 |
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Synonyms: |
MnSOD, Sod2-, Sod2m1ucsf, Sod2mlucsf, Sod2tm1Bay |
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Gene:
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Sod2
Location:
Chr17:13007839-13018119 bp, + strand
Genetic Position: Chr17,
8.75 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:29899
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Parent Cell Line:
| CB1-4 (ES Cell) |
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Strain of Origin:
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C57BL/6J x (Rb(11.16)2H x Rb(16.17)32Lub)F1
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A neomycin resistance cassette replaced exon 3 which encodes 39 amino acids involved in homodimerization, tetramer formation, and manganese binding. RT-PCR detected a product from brain RNA that was 117 bp shorter in homozygous mutant mice than in wild type mice. SOD2 activity was not detected in homozygous mutant mice (tissue not specified) and was reduced in brain, heart, liver, and kidney of heterozygous mice. (J:29899)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
Homozygous mutant mice die within 10 days after birth. They show dilated cardiomyopathy, lipid accumulation in skeletal muscles and in the liver, and acidosis. Succinate dehydrogenase and aconitase activities are severely reduced, especially in the heart. SOD2 is needed to protect mitochondrial enzymes susceptible to superoxide inactivation (J:29899).
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| References |
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Original: |
J:29899
Li Y et al.,
"Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase."
Nat Genet 1995 Dec;11(4):376-81
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All: |
57 reference(s)
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Analysis Tools
