|
|
| Nomenclature |
|
Symbol:
|
Sco2tm2.1Easc
|
|
Name:
|
SCO cytochrome oxidase deficient homolog 2 (yeast);
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
|
|
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 (knock-in) |
|
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)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| 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:
|
1 strain or line 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: |
2 reference(s)
|
|
Analysis Tools
