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Allele : Lmna<tm12Lgf> lamin A; targeted mutation 12, Loren G Fong

Primary Identifier  MGI:5806143 Allele Type  Targeted
Attribute String  Modified isoform(s) Gene  Lmna
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Lmna<G609G>,
  • Lmna<G609G>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

7 Publication categories

Trail: Allele