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| Nomenclature |
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Symbol:
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Sod2tm1Leb
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Name:
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superoxide dismutase 2, mitochondrial;
targeted mutation 1, Russell M Lebovitz
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MGI ID: |
MGI:1857480 |
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Synonyms: |
Sod2-, SOD2m1BCM, Sod2mlbcm |
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Gene:
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Sod2
Location:
Chr17:13007839-13018119 bp, + strand
Genetic Position: Chr17,
8.75 cM
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Histological abnormalities in Sod2tm1Leb/Sod2tm1Leb mice
Show the 2 image(s) involving this allele.
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:36148
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Parent Cell Line:
| AB2.1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
26 reference(s)
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