Lmna^tm12Lgf

---

Species

Mus musculus

Symbol

Lmna^tm12Lgf

Category

allele

Allele of gene

Lmna

Transgenic Constructs

None

Synonyms

• Lmna^G609G

Description

The most frequent mutation found in Hutchinson-Gilford progeria syndrome, a C to T transition, was introduced into exon 11. This mutation does not result in a protein sequence change because both encode a glycine at amino acid position 609 (G609G). Aortas show lamin C and large amounts of progerin but only small amounts of lamin A, indicating that the main product of the allele is progerin.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations