Version: 8.0.0
Date: Tue Jan 28 2025
Nf1tm1.1Kest
MGI:6153136
Allele of Nf1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Nf1tm1.1Kest

Species
Mus musculus
Symbol
Nf1tm1.1Kest
Category
allele
Allele of gene
Nf1
Transgenic Constructs
None
Synonyms
  • Nf1Arg681*
Description
Arginine codon 683 (CGA) in exon 18 was changed to a stop codon (TGA) (p.R683*) and an FRT site flanked neomycin selection cassette was inserted into intron 17. Flp-mediated recombination removed the selection cassette. The mutation recapitulates the human c.2041C>T p.Arg681* 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
    Annotation details
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