Lmna^tm1.1Bliu
Targeted Allele Detail

Summary

• Symbol: Lmna^tm1.1Bliu
• Name: lamin A; targeted mutation 1.1, Baohua Liu
• MGI ID: MGI:6423596
• Synonyms: Lmna^G609G
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm1.1Bliu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:287256
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s))
• Mutations: Insertion, Single point mutation
• Mutation details: The most frequent mutation in Hutchinson-Gilford progeria syndrome, a C to T change, was introduced into exon 11. This mutation does not result in a protein sequence change because both encode a glycine at amino acid position 609 (G609G). In addition, a loxP flanked neomycin resistance gene was introduced upstream of exon 11. Cre-mediated recombination removed the neomycin resistance gene. The G609G is equivalent to the human G608G mutation which activates an alternate splicing event and generates a 50-amino acid truncated form of Lamin A, referred to as progerin. (J:287256)

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: 84 strains or lines available

References

• Original: J:287256 Sun S, et al., Vascular endothelium-targeted Sirt7 gene therapy rejuvenates blood vessels and extends life span in a Hutchinson-Gilford progeria model. Sci Adv. 2020 Feb;6(8):eaay5556
• All: 3 reference(s)