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Allele : Nf1<tm2.1Kest> neurofibromin 1; targeted mutation 2.1, Robert A Kesterson
Primary Identifier  MGI:6153137 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Nf1
Transmission  Germline Strain of Origin  C57BL/6NTac
Is Recombinase  false Is Wild Type  false
molecularNote  Glycin codon 850 (CGT) in exon 21 was changed to arginine (CGT) (p.G850R) and an FRT site flanked neomycin selection cassette was inserted into intron 20. Flp-mediated recombination removed the selection cassette. The mutation recapitulates the human c.2542G>C p.Gly848Arg variant associated with Neurofibromatosis type 1 (NF1).
  • mutations:
  • Single point mutation
  • synonyms:
  • Nf1<Gly848Arg>,
  • Nf1<Gly848Arg>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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