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Sod2tm1Leb
Targeted Allele Detail
Summary
Symbol: Sod2tm1Leb
Name: superoxide dismutase 2, mitochondrial; targeted mutation 1, Russell M Lebovitz
MGI ID: MGI:1857480
Synonyms: Sod2-, SOD2m1BCM, Sod2mlbcm
Gene: Sod2  Location: Chr17:13226726-13237006 bp, + strand  Genetic Position: Chr17, 8.75 cM
Alliance: Sod2tm1Leb page
Histological abnormalities in Sod2tm1Leb/Sod2tm1Leb 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-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 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
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structure(s)
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:  24 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:  44 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)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory