Lmna^tm1Lgf
Targeted Allele Detail

Summary

• Symbol: Lmna^tm1Lgf
• Name: lamin A; targeted mutation 1, Loren G Fong
• MGI ID: MGI:3587791
• Synonyms: Lmna^HG
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm1Lgf page

Lmna^tm1Lgf/Lmna^tm1Lgf mice are small and have poorly mineralized bone

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:100220
• 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 and the last 150 nucleotides of exon 11 were deleted, thereby abolishing production of lamin C and producing a mutated prelamin A that precludes wild-type Lmna synthesis. A loxP flanked neo was inserted downstream of exon 12. Western blot of mutant MEFs demonstrated the expression of large amounts of mutant prelamin A. (J:100220)

Disease models

Expression

In Structures Affected by this Mutation:

10 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:100220 Yang SH, et al., Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation. Proc Natl Acad Sci U S A. 2005 Jul 19;102(29):10291-6
• All: 8 reference(s)