| Primary Identifier | MGI:1856372 | Allele Type | Spontaneous |
| Attribute String | Hypomorph | Gene | Otc |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | This allele was identified from the results of a noncomplementation test with Otcspf. A missense mutation was identified, with a c.240A>T transversion in exon 3, leading to a lysine to asparagine substitution (p.K80N). The K80 residue is located outside the carbamoyl phosphate and ornithine binding regions. qRT-PCR confirmed similar levels of hepatic mRNA in heterozygous females and hemizygous males as in wild-type mice, while Western blot showed drastically reduced hepatic protein levels. Otc enzyme activity is 10-12% of wild-type levels. |
