Primary Identifier | MGI:1856875 | Allele Type | Spontaneous |
Gene | Prss8 | Inheritance Mode | Recessive |
Strain of Origin | DBA x Tyr<c-ch> Oca2<p> Myo7a<sh1> | Is Recombinase | false |
Is Wild Type | false |
molecularNote | A T-to-A transversion in exon 4 changes a highly conserved non-polar valine at position 170 to a fully charged aspartate residue (p.V170D). Expression levels of the mutant protein are similar to expression levels of the wild-type protein. An enteropeptidase activated recombinant version of this mutant protien displays a low residual enzymatic activity for a fluorogenic peptide substrate. |