Primary Identifier | MGI:3799303 | Allele Type | Chemically induced (ENU) |
Gene | Pcnt | Inheritance Mode | Recessive |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | ENU mutagenesis induces a two base pair deletion in exon 31. The resulting frame shift disrupts all three isoforms with isoform A containning 46 and isoforms B and S containing 43 novel amino acids before premature truncation. The absence of the 330 KDa and 250 KDa isoforms was confirmed by western blot analysis on E14.5 brain extracts. |