Sod2<tm1Cje> Targeted Allele Detail MGI Mouse (MGI:1857344)

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24