Sod2<tm1Leb> Targeted Allele Detail MGI Mouse (MGI:1857480)

Sod2^tm1Leb
Targeted Allele Detail

Summary

Symbol:	Sod2^tm1Leb
Name:	superoxide dismutase 2, mitochondrial; targeted mutation 1, Russell M Lebovitz
MGI ID:	MGI:1857480
Synonyms:	Sod2^-, SOD2^m1BCM, Sod2^mlbcm
Gene:	Sod2 Location: Chr17:13226726-13237006 bp, + strand Genetic Position: Chr17, 8.75 cM
Alliance:	Sod2^tm1Leb page

Histological abnormalities in Sod2^tm1Leb/Sod2^tm1Leb mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:36148
Parent Cell Line:	AB2.1 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1^b-m2

Mutation
description

Allele Type:		Targeted (Null/knockout)
Mutations:		Insertion, Intragenic deletion
		Mutation details: A human HPRT minigene driven by the PGK promoter replaced exons 1 and 2, and sequences approximately 500 bp immediately 5' of exon 1. The replaced region encodes the transcription and translation start sites, the mitochondrial targeting sequence, and one of three histidines that bind directly to the manganese cofactor. Northern blot analysis of brain did not detect mRNA in homozygous mutant mice. Enzyme activity assays of heart did not detect active protein in homozygous mutant mice. (J:36148)

Phenotypes

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

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Sod2 Mutation:	26 strains or lines available

References

Original:	J:36148 Lebovitz RM, et al., Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice. Proc Natl Acad Sci U S A. 1996 Sep 3;93(18):9782-7
All:	46 reference(s)

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