Whole exome sequencing of ENU-induced thrombosis modifier mutations in the mouse
Fig 3
Plcb4R335Q co-segregates with the rescue phenotype in pedigrees 12 and 13.
A) One ENU mating exhibited a significantly higher number of rescue progeny (n = 6) compared to all ENU matings (p<5x10-5) and compared to ENU matings with ≥1 rescue progeny (p<0.05). B) One female in this ENU mating carried a de novo SNV (R335Q) in the Plcb4 gene that was inherited in phase with the Tfpi- allele by 3 of the G1 rescues. C) The Plcb4 gene is loosely linked to the Tfpi locus on chromosome 2, with a predicted recombination rate of 14.1%. No recombination was observed in 40 rescues from pedigree 12 and 13, while their littermates (n = 149) exhibited close to the expected recombination rate. D) The Plcb4R335Q mutation lies in a highly conserved region in exon 13 (data from Multiz alignment on UCSC Genome Browser).