References
Query Results -- Details
MGI Accession ID: MGI:3690494
J Number: J:114974
Other Accession IDs:
Title: A polymorphism in New Zealand inbred mouse strains that inactivates phosphatidylcholine transfer protein.
Authors: Pan HJ; Agate DS; King BL; Wu MK; Roderick SL; Leiter EH; Cohen DE
Journal: FEBS Lett
Volume: 580
Issue: 25
Date: 2006 Oct 30
Year: 2006
Pages: 5953-8
Review Status: Peer Reviewed
Abstract:
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.
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