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Targeted Allele Detail
Symbol: Sod2tm1Cje
Name: superoxide dismutase 2, mitochondrial; targeted mutation 1, Charles J Epstein
MGI ID: MGI:1857344
Synonyms: MnSOD, Sod2-, Sod2m1ucsf, Sod2mlucsf, Sod2tm1Bay
Gene: Sod2  Location: Chr17:13007839-13018119 bp, + strand  Genetic Position: Chr17, 8.75 cM
Germline Transmission:  Earliest citation of germline transmission: J:29899
Parent Cell Line:  CB1-4 (ES Cell)
Strain of Origin:  C57BL/6J x (Rb(11.16)2H x Rb(16.17)32Lub)F1
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 27 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Sod2 Mutation:  13 strains or lines available
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).
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
All:  66 reference(s)

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MGI 6.12
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