| First Author | Kumar V | Year | 2013 |
| Journal | Science | Volume | 342 |
| Issue | 6165 | Pages | 1508-12 |
| PubMed ID | 24357318 | Mgi Jnum | J:203183 |
| Mgi Id | MGI:5525123 | Doi | 10.1126/science.1245503 |
| Citation | Kumar V, et al. (2013) C57BL/6N mutation in Cytoplasmic FMRP interacting protein 2 regulates cocaine response. Science 342(6165):1508-12 |
| abstractText | The inbred mouse C57BL/6J is the reference strain for genome sequence and for most behavioral and physiological phenotypes. However, the International Knockout Mouse Consortium uses an embryonic stem cell line derived from a related C57BL/6N substrain. We found that C57BL/6N has a lower acute and sensitized response to cocaine and methamphetamine. We mapped a single causative locus and identified a nonsynonymous mutation of serine to phenylalanine (S968F) in Cytoplasmic FMRP interacting protein 2 (Cyfip2) as the causative variant. The S968F mutation destabilizes CYFIP2, and deletion of the C57BL/6N mutant allele leads to acute and sensitized cocaine-response phenotypes. We propose that CYFIP2 is a key regulator of cocaine response in mammals and present a framework to use mouse substrains to identify previously unknown genes and alleles regulating behavior. |
