A polymorphism in New Zealand inbred mouse strains that inactivates phosphatidylcholine transfer protein.

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Animals, Base-Sequence, Chromosome-Mapping, DNA-Complementary, Male, Mice-Inbred-NZB, Mice-Inbred-Strains, Mice-Obese, Models-Molecular, Phosphatidylcholines, Phospholipid-Transfer-Proteins, Point-Mutation, Polymorphism-Genetic, Protein-Conformation, Species-Specificity

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FEBS Lett 2006 Oct; 580(25):5953-8.


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.