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Allele : Cyfip2<M1N> cytoplasmic FMR1 interacting protein 2; mutation 1, National Institutes of Health

Primary Identifier  MGI:5527294 Allele Type  Spontaneous
Gene  Cyfip2 Inheritance Mode  Dominant
Strain of Origin  C57BL/6N Is Recombinase  false
Is Wild Type  false
molecularNote  An G-to-A mutation at 46,222,615 bp of chromosome 11 (GRCm38) occurred between 1961 and 1974 in the C57BL/6N strain that resulted in the amino acid substitution of serine with phenylalanine at position 968 (p.S968F). This mutation is found in all C57BL/6N substrains (C57BL/6NCrl, C57BL/6NTac and C57BL/6NJ) but is not present in the C57BL/6J strain or substrains (C57BL/6Ei, C57BL/6EiJ, C57BL/6ByJ and C57BL/6By). The mutation destabilizes the protein leading to decreased half-life.
  • mutations:
  • Single point mutation
  • synonyms:
  • Cyfip2<6N>,
  • Cyfip2<6N>,
  • Cyfip2<S968F>,
  • Cyfip2<S968F>,
  • Cyfip2<N>,
  • Cyfip2<B6N>,
  • Cyfip2<N>,
  • Cyfip2<B6N>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

5 Carried By

0 Driven By

15 Publication categories