| Primary Identifier | MGI:1857883 | Allele Type | Spontaneous |
| Attribute String | Null/knockout | Gene | Dysf |
| Inheritance Mode | Recessive | Strain of Origin | SJL |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | The molecular basis for the mutation is due to a splicing mutation in the gene, resulting from a 141 bp deletion of a small tandem repeat in an intron. This splicing mutation results in the deletion of an exon from the encoded mRNA. This results in a 171 bp in-frame deletion in the encoded mRNA, and is predicted to remove 57 amino acids from the corresponding protein. This region corresponds to most of the fourth C2 domain of the protein, and the deletion likely results in instability of the protein. |
