Lmna^tm11Lgf
Targeted Allele Detail

Summary

• Symbol: Lmna^tm11Lgf
• Name: lamin A; targeted mutation 11, Loren G Fong
• MGI ID: MGI:5752218
• Synonyms: Lmna^HG-C
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm11Lgf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:220988
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Introns 10 and 11 and the last 150 nucleotides of exon 11 were deleted, thereby abolishing production of lamin C and producing a mutated prelamin A that precludes wild-type Lmna synthesis. The lamin C 3' UTR replaced the endogenous prelamin A 3' UTR and a floxed neomycin resistance cassette was inserted downstream of the modified 3' UTR. Absence of a Mir9 binding site results in expression in neurons. High levels of expression are detected in the CNS and peripheral tissues. (J:220988)

Disease models

Expression

In Structures Affected by this Mutation:

8 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:220988 Yang SH, et al., Mice that express farnesylated versions of prelamin A in neurons develop achalasia. Hum Mol Genet. 2015 May 15;24(10):2826-40
• All: 1 reference(s)