| Primary Identifier | MGI:2449701 | Allele Type | Spontaneous |
| Gene | Smad4 | Inheritance Mode | Dominant |
| Strain of Origin | 129P2/OlaHsd | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | Sequence analysis identified a deletion of a single A in the exon 6 splice acceptor site. The resultant activation of a cryptic splice site 4 nt downstream of exon 6 lead to a frameshift mutation at amino acid 261 which in turn created a nonsense mutation 71 codons downstream. RT-PCR analysis indicated decreased transcript stability, putatively due to nonsense mediated decay. Protein was undetected by Western blot analysis of homozygous mutant ES cells. |
