Lmna^tm1Gbon
Targeted Allele Detail

Summary

• Symbol: Lmna^tm1Gbon
• Name: lamin A; targeted mutation 1, Gisele Bonne
• MGI ID: MGI:3527206
• Synonyms: Lmna^H222P
• Gene: Lmna Location: Chr3:88388455-88413842 bp, - strand Genetic Position: Chr3, 38.84 cM
• Alliance: Lmna^tm1Gbon page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:95528
• Parent Cell Line: CK35 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: An H222P missense mutation was introduced into exon 4. Western blot demonstrated that protein levels were comparable in mutants and wild-type mice. (J:95528)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	14 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:95528 Arimura T, et al., Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. Hum Mol Genet. 2005 Jan 1;14(1):155-69
• All: 34 reference(s)