| First Author | Pan HJ | Year | 2006 |
| Journal | FEBS Lett | Volume | 580 |
| Issue | 25 | Pages | 5953-8 |
| PubMed ID | 17046758 | Mgi Jnum | J:114974 |
| Mgi Id | MGI:3690494 | Doi | 10.1016/j.febslet.2006.09.066 |
| Citation | Pan HJ, et al. (2006) A polymorphism in New Zealand inbred mouse strains that inactivates phosphatidylcholine transfer protein. FEBS Lett 580(25):5953-8 |
| abstractText | New Zealand obese (NZO/HlLt) male mice develop polygenic diabetes and altered phosphatidylcholine metabolism. The gene encoding phosphatidylcholine transfer protein (PC-TP) is sited within the support interval for Nidd3, a recessive NZO-derived locus on Chromosome 11 identified by prior segregation analysis between NZO/HlLt and NON/Lt. Sequence analysis revealed that the NZO-derived PC-TP contained a non-synonymous point mutation that resulted in an Arg120His substitution, which was shared by the related NZB/BlNJ and NZW/LacJ mouse strains. Consistent with the structure-based predictions, functional studies demonstrated that Arg120His PC-TP was inactive, suggesting that this mutation contributes to the deficiencies in phosphatidylcholine metabolism observed in NZO mice. |
