Primary Identifier | MGI:3848037 | Allele Type | Spontaneous |
Gene | Lmna | Inheritance Mode | Semidominant |
Strain of Origin | BXD8/TyJ | Is Recombinase | false |
Is Wild Type | false |
molecularNote | A c.155T>G transversion is present in exon 1, leading to a missense mutation which substitutes a leucine with an arginine at amino acid 52 (p.L52R). This mutation is predicted to disrupt the coiled coil rod domain of the protein. Mapping data showed the mutation to have occurred within a C57BL/6J derived region of the BXD8/TyJ genome. |