Lmna^tm5Lgf
Targeted Allele Detail

Summary

• Symbol: Lmna^tm5Lgf
• Name: lamin A; targeted mutation 5, Loren G Fong
• MGI ID: MGI:4457607
• Synonyms: Lmna^nPLAO
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm5Lgf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:160705
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Introns 10 and 11 of Lmna were deleted thereby abolishing production of lamin C and producing a only non-farnesylated prelamin A. A point mutation was introduced into exon 12 that changes the cysteine of prelamin A's CaaX motif to a serine (i.e. CSIM to SSIM). (J:160705)

Disease models

Expression

In Structures Affected by this Mutation:

4 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: 82 strains or lines available

References

• Original: J:160705 Davies BS, et al., An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria. Hum Mol Genet. 2010 Jul 1;19(13):2682-94
• All: 1 reference(s)