Lmna^tm1Otin
Targeted Allele Detail

Summary

• Symbol: Lmna^tm1Otin
• Name: lamin A; targeted mutation 1, Carlos Lopez-Otin
• MGI ID: MGI:5295746
• Synonyms: Lamin C-Stop, Lmna^LCS
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm1Otin page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:177632
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The mutation responsible for human Hutchinson-Gilford progeria syndrome, a C to T transition, was introduced 6 nucleotides downstream from the progerin 5' splice site in exon 11 at nucleotide 1824. This mutation does not result in a protein sequence change because both encode a glycine at amino acid position 609 (Gly609Gly). In addition, a neomycin resistance gene flanked by two loxP sites was inserted into intron 10. The C to T mutation activates a cryptic splicing donor site that leads to the accumulation of a truncated form of prelamin A, called progerin. However, the presence of the neo cassette upstream of the mutation prevents the formation of the prelamin A transcripts by blocking this lamin A-specific spicing. This allele is only able to produce the lamin C splice variant. (J:177632)

Expression

In Mice Carrying this Mutation:

2 RNA-Seq or microarray experiment(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:177632 Osorio FG, et al., Splicing-directed therapy in a new mouse model of human accelerated aging. Sci Transl Med. 2011 Oct 26;3(106):106ra107
• All: 3 reference(s)