| Primary Identifier | MGI:2662836 | Allele Type | Targeted |
| Attribute String | Humanized sequence, Hypomorph | Gene | Lmna |
| Inheritance Mode | Recessive | Transmission | Germline |
| Strain of Origin | 129S1/Sv-Oca2<+> Tyr<+> Kitl<+> | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | A leucine to proline missense mutation, based on a human mutation associated with Emery-Dreifuss muscular distrophy, was introduced into exon 9 at codon 530 by homologous recombination. A single loxP site remained in intron 9 after a neo selection cassette was removed via in vivo cre mediated recombination. Splicing defects surrounding exon 9 were identified by RT-PCR and sequence analyses and putatively resulted in transcript instability. Consistent with reduced levels of lamin A and C transcripts, protein levels were diminished in MEFs derived from mutant mice. |
