Primary Identifier | MGI:3055587 | Allele Type | Chemically induced (ENU) |
Gene | Enam | Inheritance Mode | Semidominant |
Strain of Origin | C57BL/6JJcl | Is Recombinase | false |
Is Wild Type | false | Project Collection | RIKEN GSC ENU Project |
molecularNote | A T-to-A nucleotide substitution disrupts a donor splicing signal in intron 4, changing it from A-GT to A-GA, which results in a splicing error and a frame shift leading to a new stop codon in exon 5. The transcript is most likely degenerated by activation of the nonsense mediated decay pathway, in which case this is a loss-of-function mutation. |