Mapping Data

Experiment

• Experiment
  TEXT
• Chromosome
  3
• Reference
  J:75395 Bodnar JS, et al., Positional cloning of the combined hyperlipidemia gene Hyplip1. Nat Genet. 2002 Jan;30(1):110-6
• ID
  MGI:2182374

Genes

Gene	Assay Type
Txnip	visible phenotype
D3Mit101

Notes

• Experiment
  2,700 animals from a (HcB-19 X CAST/Ei)F2 cross were used to fine map the Hyplip1 locus. Hyplip1 was previously mapped to mouse Chromosome 3 with peak linkage to plasma triglyceride levels with a LOD score of 30.5 at D3Mit101. Recombinant inbred strain HcB-19 exhibits a phenotype similar to human familial combined hyperlipidemia (FCHL), including hypertriglyceridemia, hypercholesterolemia,elevated plasma apolipoprotein B and increased secretion of triglyceride-rich lipoproteins. Txnip was narrowed to an 160kb interval on mouse Chromosome 3 and a BAC contig between D3Mit76 and D3Mit157 was constructed to start a chromosome walk. Four candidate genes were examined of which Tnxip shows an 8-fold decrease in HcB-19 animals. Sequence analysis revealed a nonsense mutation at codon 97 of exon 2, which would result in premature translation termination.