Lmna^tm2.1Gbon
Targeted Allele Detail

Summary

• Symbol: Lmna^tm2.1Gbon
• Name: lamin A; targeted mutation 2.1, Gisele Bonne
• MGI ID: MGI:5306919
• Synonyms: Lmna^deltaK32
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm2.1Gbon page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:180603
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 3 nucleotide (AAG) deletion that removes lysine 32 was introduced into exon 1 and a floxed neo-cre cassette was inserted into intron 1 via homologous recombination. The neo-cre cassette is self-excising in the male germ line. In homozygous mice protein expression of lamin A/C is reduced in skeletal muscles and it fails to relocalize to the nuclear periphery in developing embryos at E17.5. (J:180603)

Disease models

Expression

In Structures Affected by this Mutation:

9 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:180603 Bertrand AT, et al., DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death. Hum Mol Genet. 2012 Mar 1;21(5):1037-48
• All: 6 reference(s)