Lmna^tm2Stw
Targeted Allele Detail

Summary

• Symbol: Lmna^tm2Stw
• Name: lamin A; targeted mutation 2, Colin L Stewart
• MGI ID: MGI:2662836
• Synonyms: Lmna^delta9, Lmna^L530P, Progeric^L530P
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm2Stw page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:83382
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph)
• Mutation: Other
• Mutation details: 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. (J:83382)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

22 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Lmna Mutation: 84 strains or lines available

References

• Original: J:83382 Mounkes LC, et al., A progeroid syndrome in mice is caused by defects in A-type lamins. Nature. 2003 May 15;423(6937):298-301
• All: 6 reference(s)