Primary Identifier | MGI:5806143 | Allele Type | Targeted |
Attribute String | Modified isoform(s) | Gene | Lmna |
Transmission | Germline | Strain of Origin | 129P2/OlaHsd |
Is Recombinase | false | Is Wild Type | false |
molecularNote | The most frequent mutation found in Hutchinson-Gilford progeria syndrome, a C to T transition, was introduced into exon 11. This mutation does not result in a protein sequence change because both encode a glycine at amino acid position 609 (G609G). Aortas show lamin C and large amounts of progerin but only small amounts of lamin A, indicating that the main product of the allele is progerin. |