Lmna^tm1.1Otin
Targeted Allele Detail

Summary

• Symbol: Lmna^tm1.1Otin
• Name: lamin A; targeted mutation 1.1, Carlos Lopez-Otin
• MGI ID: MGI:5295747
• Synonyms: Lmna^G609G
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm1.1Otin 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 (Modified isoform(s))
• Mutations: Insertion, Single point mutation
• Mutation details: Mice carrying the Lmna^tm1Otin allele were crossed with a Cre-deleter mouse to get germline removal of the neomycin resistance cassette. Removal of the neo cassette allows for the expression of the C to T mutation at nucleotide 1824 seen in Hutchinson-Gilford progeria syndrome patients and activates the cryptic splicing donor site leading to accumulation of the truncated form of prelamin A, called progerin. This allele expresses lamin C, lamin A and progerin. (J:177632)

Disease models

Expression

In Mice Carrying this Mutation:	4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	19 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: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: 33 reference(s)