Lmna^tm8Lgf
Targeted Allele Detail

Summary

• Symbol: Lmna^tm8Lgf
• Name: lamin A; targeted mutation 8, Loren G Fong
• MGI ID: MGI:4868581
• Synonyms: Lmna^csmHG
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm8Lgf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:167229
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 10, 11, and 12 (and the introns between) were replaced with the corresponding cDNA sequence in which the last 150 bp of exon 11 were removed as well as 3 nucleotides of exon 12 that code for the isoleucine in the C-terminal CSIM sequence. A floxed neo cassette was inserted downstream of exon 12. This allele is predicted to produce a non-farnesylated protein because it lacks the farnesylatible isoleucine in the CaaX motif. The absence of A and C isoforms and production of the progerin isoform was confirmed by western blot analysis on liver extracts. (J:167229)

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:167229 Yang SH, et al., Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin. Hum Mol Genet. 2011 Feb 1;20(3):436-44
• All: 2 reference(s)