Cyfip2^M1N
Spontaneous Allele Detail

Summary

• Symbol: Cyfip2^M1N
• Name: cytoplasmic FMR1 interacting protein 2; mutation 1, National Institutes of Health
• MGI ID: MGI:5527294
• Synonyms: Cyfip2^6N, Cyfip2^B6N, Cyfip2^N, Cyfip2^S968F
• Gene: Cyfip2 Location: Chr11:46084677-46203686 bp, - strand Genetic Position: Chr11, 27.61 cM, cytoband B1.2
• Alliance: Cyfip2^M1N page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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. (J:203183)
• Inheritance: Dominant

Expression

In Mice Carrying this Mutation:

2 RNA-Seq or microarray experiment(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cyfip2 Mutation: 61 strains or lines available

References

• Original: J:203183 Kumar V, et al., C57BL/6N mutation in Cytoplasmic FMRP interacting protein 2 regulates cocaine response. Science. 2013 Dec 20;342(6165):1508-12
• All: 13 reference(s)