| Primary Identifier | MGI:3707419 | Allele Type | Chemically induced (ENU) |
| Gene | Disc1 | Inheritance Mode | Semidominant |
| Strain of Origin | (DBA/2JJcl x C57BL/6JJcl)F1 | Is Recombinase | false |
| Is Wild Type | false | Project Collection | RIKEN GSC ENU Project |
| description | Binding of mutant DISC1 to phosphodiesterase-4B, cAMP specific, isoform 1 (PDE4B1) is significantly reduced (p<0.05), and PDE4 activity is reduced by 50% in mutant versus wild-type brain extracts. (J:120634) |
| molecularNote | This mutation, identified by temperature gradient capillary electrophoresis (TGCE) heteroduplex screening for ENU-induced mutations in exon 2 of the gene, comprises an A-to-T transversion resulting in replacement of glutamine by leucine at amino acid position 31 (Q31L) of the protein, immediately adjacent to a predicted nuclear localization signal. Immunoblot analysis of brain extracts with an anti-DISC1 antibody followed by densitometric analysis demonstrates the presence of similar amounts of the major protein isoforms in mutant and wild-type brains. DISC1 is also similarly distributed among subcellular fractions (except the nucleus, which was not analyzed) of mutant and wild-type brains. |
