Version: 8.0.0
Date: Tue Jan 28 2025
Nf1tm2.1Kest
MGI:6153137
Allele of Nf1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Nf1tm2.1Kest

Species
Mus musculus
Symbol
Nf1tm2.1Kest
Category
allele
Allele of gene
Nf1
Transgenic Constructs
None
Synonyms
  • Nf1Gly848Arg
Description
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).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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