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EN
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). (J:234172)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
