| Primary Identifier | MGI:2180134 | Allele Type | Spontaneous |
| Attribute String | Hypomorph | Gene | Aanat |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| description | The A variant of this SNP has also been identified in strain LG/J. |
| molecularNote | Low levels of melatonin production in C57BL/6J mice have been correlated with a point mutation in the gene encoding arylalkylamine N-acetyltransferase. A G to A conversion within a cryptic splice site results in the preferential incorporation of a pseudo-exon, containing an in-frame stop codon as the second codon, into the transcript. In vitro analysis demonstrates that the resulting truncated protein, which lacks several conserved C-terminal motifs, has less than 1% enzyme activity when compared to control C3H/HeJ mice. |
