Mapping Data

Experiment

• Experiment
  TEXT-Genetic Cross
• Chromosome
  7
• Reference
  J:187708 Aljakna A, et al., Pla2g12b and Hpn Are Genes Identified by Mouse ENU Mutagenesis That Affect HDL Cholesterol. PLoS One. 2012;7(8):e43139
• ID
  MGI:5440859

Genes

Gene
Hpn
Hpn

Notes

• Experiment
  The chromosomal position of the mutation in Hlb320 was identified by the analysis of the F2 progeny from a cross beteween Hlb320 and C57L which mapped the mutation to Chr 7, with a peak near SNP rs4226386 and a significant LOD score of 12.4. The intervalcontaining the mutation was further narrowed to 21.2 Mbp by genotyping the affected animals with a crossover within the interval using aditional SNP markers. The critical region extends between rs31800136 and rs48378837.
  
  Comparison of gene expression inthe recombinant interval identified 3 differentially expressed genes in the region: Hamp (app 2.65 fold downregulated), Hamp2 (app 4 fold downregulated), and Hpn (app 7 fold downreulated).
  
  Sequencing of the promtor region, the coding region, and splice sites of Hamp and Hamp2 did not reveal any mutations, suggesting that trans-regulation is the cause of the expression difference.
  
  Sequencing of Hpn identified a single nucleotide mutation of T to C in the second base pair in the 3' splice site of exon 8.The MGNC named the allele Hpn^Hlb320.