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Allele : Lmna<tm1.1Bliu> lamin A; targeted mutation 1.1, Baohua Liu

Primary Identifier  MGI:6423596 Allele Type  Targeted
Attribute String  Humanized sequence, Modified isoform(s) Gene  Lmna
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  The most frequent mutation in Hutchinson-Gilford progeria syndrome, a C to T change, 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). In addition, a loxP flanked neomycin resistance gene was introduced upstream of exon 11. Cre-mediated recombination removed the neomycin resistance gene. The G609G is equivalent to the human G608G mutation which activates an alternate splicing event and generates a 50-amino acid truncated form of Lamin A, referred to as progerin.
  • mutations:
  • Insertion,
  • 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

6 Publication categories

Trail: Allele