Sod2^tm1Cje
Targeted Allele Detail

Summary

• Symbol: Sod2^tm1Cje
• Name: superoxide dismutase 2, mitochondrial; targeted mutation 1, Charles J Epstein
• MGI ID: MGI:1857344
• Synonyms: MnSOD, Sod2-, Sod2^m1ucsf, Sod2^mlucsf, Sod2^tm1Bay
• Gene: Sod2 Location: Chr17:13226726-13237006 bp, + strand Genetic Position: Chr17, 8.75 cM
• Alliance: Sod2^tm1Cje page

Mutation origin

• 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

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

In Structures Affected by this Mutation:

26 anatomical structure(s)

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: 26 strains or lines available

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).

References

• 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: 72 reference(s)