| Primary Identifier | MGI:3576024 | Allele Type | Chemically induced (ENU) |
| Attribute String | Hypomorph | Gene | Prdm16 |
| Inheritance Mode | Recessive | Strain of Origin | BALB/c |
| Is Recombinase | false | Is Wild Type | false |
| description | The Ski gene has been excluded as a candidate gene for this mutation. |
| molecularNote | This mutation was identified in an ENU mutagenesis screen. A cytosine to adenosine mutation is found within intron 6 at the base-pair position immediately preceding the invariant AG-dinucleotide splice acceptor site. The mutation causes variable skipping of exon 7. The consequence of this aberrant splicing event is a frame-shift leading to premature termination within exon 8 and inclusion of 46 out-of-frame amino acids. No shortened protein is detectable by western analysis, suggesting this mutant peptide is unstable. Full length RNA is detected and extended exposure of western blots of homozygous embryo head nuclear extracts detects protein indicating that this is a hypomorphic allele. |
