Sod2^tm1Kskk
Targeted Allele Detail

Summary

• Symbol: Sod2^tm1Kskk
• Name: superoxide dismutase 2, mitochondrial; targeted mutation 1, Karin Scharffetter-Kochanek
• MGI ID: MGI:5774733
• Synonyms: Sod2^flox
• Gene: Sod2 Location: Chr17:13226726-13237006 bp, + strand Genetic Position: Chr17, 8.75 cM
• Alliance: Sod2^tm1Kskk page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:98289
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: Exon 3, which encodes 39 amino acids responsible for homodimerization, tetramer formation and manganese binding, was flanked by loxP sites. A floxed neomycin resistance cassette was inserted upstream of exon 3. (J:98289)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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cn1	Sod2^tm1Kskk/Sod2^tm1Kskk Tg(BEST1-rtTA,tetO-cre)1Yzl/0	B6.Cg-Sod2^tm1Kskk Tg(BEST1-rtTA,tetO-cre)1Yzl
cn2	Sod2^tm1Kskk/Sod2^tm1Kskk Tg(BEST1-rtTA,tetO-cre)1Yzl/0	B6J.Cg-Sod2^tm1Kskk Tg(BEST1-rtTA,tetO-cre)1Yzl

Phenotypes:

Affected Systems	cn1	cn2
show or hide all annotated terms
cardiovascular system		√
abnormal retina vasculature morphology		√
retina hemorrhage		√
cellular		√
oxidative stress		√
nervous system		√
short photoreceptor inner segment		√
short photoreceptor outer segment		√
abnormal retina rod cell outer segment morphology		√
retina photoreceptor degeneration		√
pigmentation	√	√
abnormal retina pigment epithelium morphology		√
abnormal retina pigmentation		√
retina pigment epithelium atrophy	√	√
vision/eye	√	√
abnormal ocular fundus morphology		√
abnormal retina vasculature morphology		√
retina hemorrhage		√
abnormal retina pigment epithelium morphology		√
abnormal retina pigmentation		√
retina pigment epithelium atrophy	√	√
thin retina outer nuclear layer	√	√
abnormal retina photoreceptor layer morphology		√
short photoreceptor inner segment		√
short photoreceptor outer segment		√
abnormal retina rod cell outer segment morphology		√
retina photoreceptor degeneration		√
retina degeneration	√
abnormal optic choroid morphology		√
abnormal Bruch membrane morphology		√
decreased a-wave amplitude	√
decreased b-wave amplitude	√
abnormal cone electrophysiology		√
abnormal rod electrophysiology		√

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

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 anatomical structure(s)

Find Mice (IMSR)

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

References

• Original: J:98289 Strassburger M, et al., Heterozygous deficiency of manganese superoxide dismutase results in severe lipid peroxidation and spontaneous apoptosis in murine myocardium in vivo. Free Radic Biol Med. 2005 Jun 1;38(11):1458-70
• All: 12 reference(s)