| Primary Identifier | MGI:4413585 | Allele Type | Targeted |
| Gene | Sco2 | Transmission | Germline |
| Strain of Origin | 129X1/SvJ | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | 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. |