| Primary Identifier | MGI:6286021 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Ppp3cb |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | Beutler Mutagenetix |
| description | https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3950 |
| molecularNote | ENU-induced T to C transition at base pair 20,508,543 (v38) on chromosome 14, or base pair 38,031 in the GenBank genomic region NC_000080 encoding Ppp3cb. The mutation corresponds to residue 1,450 in the cDNA sequence ENSMUST00000022355.10 within exon 12 of 12 total exons. The mutation results in a cysteine to arginine substitution at position 484 (C484R) in an alternative 497-amino acid isoform of CnAbeta. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is within intron 12 (81-base pairs from exon 12) in the canonical isoform of Ppp3cb; the mutation is not predicted to affect splicing of the transcript. |
