| Primary Identifier | MGI:3038918 | Allele Type | Spontaneous |
| Gene | Cacna2d2 | Inheritance Mode | Recessive |
| Strain of Origin | DBA/2J | Is Recombinase | false |
| Is Wild Type | false |
| description | genbank ID for this mutation: AY502107 |
| molecularNote | A 38 kb genomic fragment encompassing a portion of intron 2, exon 3 (117 bp), and a portion of intron 3 spontaneously duplicated and integrated into the endogenous intron 3 with a 3 bp overlap. No apparent differences in expression or splicing were detected between the mutant wild-type alleles. Protein analysis indicated that the mutant precursor protein containing an additional 39 amino acids (encoded by the duplicated exon 3) was produced, properly associated with the plasma membrane, and was properly cleaved into alpha2 and delta2 subunits, however the cleaved subunits did not covalently associate with each other via disulfide bonds. |
