Lmna^tm12Lgf
Targeted Allele Detail

Summary

• Symbol: Lmna^tm12Lgf
• Name: lamin A; targeted mutation 12, Loren G Fong
• MGI ID: MGI:5806143
• Synonyms: Lmna^G609G
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm12Lgf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:234711
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: 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. (J:234711)

Disease models

Expression

In Structures Affected by this Mutation:

2 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:234711 Lee JM, et al., Modulation of LMNA splicing as a strategy to treat prelamin A diseases. J Clin Invest. 2016 Apr 1;126(4):1592-602
• All: 4 reference(s)