| Primary Identifier | MGI:5295746 | Allele Type | Targeted |
| Attribute String | Conditional ready, No functional change | Gene | Lmna |
| Transmission | Germline | Strain of Origin | 129P2/OlaHsd |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | The mutation responsible for human Hutchinson-Gilford progeria syndrome, a C to T transition, was introduced 6 nucleotides downstream from the progerin 5' splice site in exon 11 at nucleotide 1824. This mutation does not result in a protein sequence change because both encode a glycine at amino acid position 609 (Gly609Gly). In addition, a neomycin resistance gene flanked by two loxP sites was inserted into intron 10. The C to T mutation activates a cryptic splicing donor site that leads to the accumulation of a truncated form of prelamin A, called progerin. However, the presence of the neo cassette upstream of the mutation prevents the formation of the prelamin A transcripts by blocking this lamin A-specific spicing. This allele is only able to produce the lamin C splice variant. |
