Article
Rapid identification of a disease allele in mouse through whole genome sequencing and bulk segregation analysis.
Genetics - 1 Mar 2011
Arnold Carrie N, Xia Yu, Lin Pei, Ross Charles, Schwander Martin, Smart Nora G, Müller Ulrich, Beutler Bruce
Abstract excerpt
In a pedigree of C57BL/6J mice homozygous for germline mutations induced by the mutagen N-ethyl-N-nitrosourea (ENU), numerous animals died under specific pathogen-free (SPF) conditions between 6 and 7 months of age. Death was caused by nephritic syndrome, which progressed to renal failure associated with focal segmental glomerulosclerosis. To identify the mutation responsible for renal disease, we sequenced...
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