Lmna^tm3Lgf
Targeted Allele Detail

Summary

• Symbol: Lmna^tm3Lgf
• Name: lamin A; targeted mutation 3, Loren G Fong
• MGI ID: MGI:3817495
• Synonyms: Lmna^nHG
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm3Lgf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:141165
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Modified isoform(s))
• Mutations: Insertion, Intragenic deletion, Single point mutation
• Mutation details: To emulate the progerin splice variant, 150 bp of the 3' end of exon 11 along with introns 10 and 11 were deleted. A single point mutation (T>A) was also used to create an amino acid substitution of serine for cysteine in the CaaX motif encoded within exon 11. This results in a nonfarnesylated progerin protein. A floxed neo cassette was inserted downstream of exon 12 for selection purposes. (J:141165)

Expression

In Structures Affected by this Mutation:

7 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:141165 Yang SH, et al., Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated. J Clin Invest. 2008 Oct;118(10):3291-300
• All: 4 reference(s)