| Primary Identifier | MGI:3038818 | Allele Type | Chemically induced (ENU) |
| Gene | Twist1 | Inheritance Mode | Dominant |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false | Project Collection | Mutagenesis for Dev. Defects |
| molecularNote | This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. Genomic sequencing revealed a T-to-C base-pair change in that resulted in a p.Ser192Pro amino acid substitution in the Twist box of the encoded protein. A mutant protein is expressed from this allele, but in an immunoprecipitation assay, CC mutant protein interacted poorly with Runx2 compared to the wild-type protein. |
