RGD Reference Report - Genetic modification of prenatal lethality and dilated cardiomyopathy in Mn superoxide dismutase mutant mice. - Rat Genome Database

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Genetic modification of prenatal lethality and dilated cardiomyopathy in Mn superoxide dismutase mutant mice.

Authors: Huang, TT  Carlson, EJ  Kozy, HM  Mantha, S  Goodman, SI  Ursell, PC  Epstein, CJ 
Citation: Huang TT, etal., Free Radic Biol Med. 2001 Nov 1;31(9):1101-10.
RGD ID: 1581260
Pubmed: PMID:11677043   (View Abstract at PubMed)

Mn superoxide dismutase (MnSOD), a mitochondrial antioxidant enzyme, has been shown to be essential for animal survival. MnSOD mutant mice (Sod2-/- mice) on the CD1 background develop severe dilated cardiomyopathy and usually die within 10 d after birth. To characterize better the phenotype and understand the mechanism of superoxide-mediated tissue damage in Sod2-/- mice, congenic Sod2-/- mice on inbred backgrounds were generated to ensure genetic homogeneity. When generated on a C57BL/6J background (B6), more than half of the fetuses develop severe dilated cardiomyopathy by embryonic day 15 and die in the uterus. Those that survive to term usually die within 24 h. In contrast, Sod2-/- mice on DBA/2J (D2) and B6D2F1 (B6D2F1) backgrounds develop normally throughout gestation and do not develop dilated cardiomyopathy. However, the D2 mice do develop a severe metabolic acidosis and survive for only up to 12 d after birth. B6D2F1) mice have a milder form of metabolic acidosis and can survive for up to 3 weeks. The marked difference in lifespans and the development of dilated cardiomyopathy in the B6 but not the D2 or B6D2F1 backgrounds indicate the possible existence of genetic modifiers that provide protection to the developing hearts in the absence of MnSOD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
dilated cardiomyopathy  ISOSod2 (Mus musculus)1581260; 1581260 RGD 
dilated cardiomyopathy  IDA 1581260 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Sod2  (superoxide dismutase 2)

Genes (Mus musculus)
Sod2  (superoxide dismutase 2, mitochondrial)

Genes (Homo sapiens)
SOD2  (superoxide dismutase 2)


Additional Information