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Allele : Lmna<tm1.1Vde> lamin A; targeted mutation 1.1, Valerie Delague

Primary Identifier  MGI:7260353 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Lmna
Transmission  Germline Strain of Origin  129/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  A C to T transition at position 892 resulting in an arginine to cysteine substitution at amino acid 298 (p.R298C) was introduced in exon 5 and an loxP-flanked neomycin selection cassette was inserted in intron 5. The selection cassette was removed via cre-mediated recombination. The R298C is the causative homozygous mutation in patients with Charcot-Marie-Tooth disease type 2B1.
  • mutations:
  • Single point mutation
  • synonyms:
  • Lmna<R298C>,
  • Lmna<R298C>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele