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Targeted Allele Detail
Symbol: Sco2tm2.1Easc
Name: SCO2 cytochrome c oxidase assembly protein; targeted mutation 2.1, Eric A Schon
MGI ID: MGI:4413585
Synonyms: Sco2loxPKI
Gene: Sco2  Location: Chr15:89371639-89373818 bp, - strand  Genetic Position: Chr15, 44.85 cM
Germline Transmission:  Earliest citation of germline transmission: J:155116
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsNucleotide 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  2 strains or lines available
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:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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