| Primary Identifier | MGI:4942335 | Allele Type | Spontaneous |
| Attribute String | Null/knockout | Gene | Ndufs4 |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6-Dnmt3l<tm1Scot> Tg(Ins2-TFRC/OVA)296Wehi |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | The mutation was caused by the spontaneous insertion of a 245-nucleotide B2 short interspersed nuclear element (SINE) within exon 3. This results in a truncated transcript lacking exon 3, which is predicted to cause a frameshift and result in a premature stop codon in exon 4. Western blot analysis confirmed the absence of protein expression in the brain, heart, liver and skeletal muscle. |
