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Allele : Nf1<tm1Joe> neurofibromin 1; targeted mutation 1, Jonathan Epstein

Primary Identifier  MGI:5634367 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Nf1
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  To generate this mutant allele, an ACN targeting vector was designed to insert (by site-directed mutagenesis) a single amino acid substitution of arginine to proline at codon 1278 (p.R1278P). The ACN cassette contains a neomycin resistance gene and cre recombinase gene under the control of the sperm-specific angiotensin-converting enzyme promoter and is flanked by loxP sites. Cre-mediated recombination during spermatogenesis of chimeric males removes the cassette leaving a single loxP site in intron 27. The mutation is the equivalent of the human p.R1276P mutation.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Nf1<GRD>,
  • Nf1<GRD>
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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

3 Publication categories

Trail: Allele