Sco2^tm2.1Easc
Targeted Allele Detail

Summary

• Symbol: Sco2^tm2.1Easc
• Name: SCO2 cytochrome c oxidase assembly protein; targeted mutation 2.1, Eric A Schon
• MGI ID: MGI:4413585
• Synonyms: Sco2^loxPKI
• Gene: Sco2 Location: Chr15:89255840-89258049 bp, - strand Genetic Position: Chr15, 44.85 cM
• Alliance: Sco2^tm2.1Easc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:155116
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Nucleotide subtitutions resulted in the amino acid substitution of lysine for glutamic acid at position 129 (E129K). A floxed neo cassette used for selection purposes was inserted downstream of the stop codon and removed by cre mediated recombination. This mutation replicated one found in almost all human SCO2-mutated patients. (J:155116)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Sco2 Mutation: 4 strains or lines available

References

• Original: J:155116 Yang H, et al., Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. Hum Mol Genet. 2010 Jan 1;19(1):170-80
• All: 6 reference(s)