Lmna^tm1.1Vde
Targeted Allele Detail

Summary

• Symbol: Lmna^tm1.1Vde
• Name: lamin A; targeted mutation 1.1, Valerie Delague
• MGI ID: MGI:7260353
• Synonyms: Lmna^R298C
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm1.1Vde page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:322912
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/SvJ

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A C to T transition at position 892 resulting in an arginine to cysteine substitution at amino acid 298 (p.R298C) was introduced in exon 5 and an loxP-flanked neomycin selection cassette was inserted in intron 5. The selection cassette was removed via cre-mediated recombination. The R298C is the causative homozygous mutation in patients with Charcot-Marie-Tooth disease type 2B1. (J:322912)

Disease models

Expression

In Structures Affected by this Mutation:

1 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:322912 Poitelon Y, et al., Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C). Neuromolecular Med. 2012 Mar;14(1):40-52
• All: 1 reference(s)