Lmna^tm3Stw
Targeted Allele Detail

Summary

• Symbol: Lmna^tm3Stw
• Name: lamin A; targeted mutation 3, Colin L Stewart
• MGI ID: MGI:3588578
• Synonyms: LMNA-N195K
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm3Stw page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:100393
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Insertion
• Mutation details: An N195K missense mutation was introduced into exon 3 but did not affect the expression levels or the stability of the transcript. A mutant lamin C protein was detected in hearts, however, the expression was less than that of wild-type, suggesting that the protein was less stable than the wild-type protein. (J:100393)

Disease models

Expression

In Structures Affected by this Mutation:

2 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:100393 Mounkes LC, et al., Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. Hum Mol Genet. 2005 Aug 1;14(15):2167-80
• All: 5 reference(s)