| Primary Identifier | MGI:1856886 | Allele Type | Spontaneous |
| Gene | Rabggta | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | Mice carrying the gunmetal mutation have a G-to-A substitution in the splice site acceptor site at the 3' end of intron 1. It eliminates the exon 2 splice acceptor by changing it from CAG to CAA, leading to mis-splicing. RT-PCR of extracts from gunmetal mice yielded two transcripts, a dominant 429 base pair transcript that lacks exon 1 and is predicted not to encode functional protein, and the 638 base pair, intron alpha retaining transcript found in wildtype mice. RABGGTA protein and enzymatic activity are found in gunmetal mice, but both are reduced by 70% relative to wildtype siblings. |
