Pla2g12b and Hpn are Genes Identified by Mouse ENU Mutagenesis that affect HDL cholesterol

ABSTRACT: Despite considerable progress understanding genes that affect the HDL particle, its function, and cholesterol content, genes identified to date explain only a small percentage of the genetic variation. We used N-ethyl-N-nitrosourea mutagenesis in mice to discover novel genes that affect HDL cholesterol levels. Two mutant lines (Hlb218 and Hlb320) with low HDL cholesterol levels were established. Causal mutations in these lines were mapped using linkage analysis: For line Hlb218 within a 12 Mbp region on Chr 10; and for line Hlb320 within a 17 Mbp region on Chr 7. High-throughput sequencing of Hlb218 liver RNA identified a mutation in Pla2g12b. The transition of G to A leads to a cysteine to tyrosine change and most likely causes a loss of a disulfide bridge. Microarray analysis of Hlb320 l

ORGANISM(S): Mus musculus

SUBMITTER: Rachael Blair 

PROVIDER: E-GEOD-37902 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress