Figure 8: Role of sex as a modifier of a genotype–phenotype relationship.

(a) Looking across IMPC knockout lines identified as having 10% or more traits with a significant genotype effect, the proportion of traits classed as SD varied. Data sets are classified as SD (purple) or genotype effect with no sex effect (green) where a genotype effect in a mutant line is observed. (b) For all traits identified as having a significant genotype effect for the Usp47^{tm1b(EUCOMM)Wtsi} line (MGI:5605792), a comparison is presented of the standardized genotype effect with 95% confidence interval for each sex with no multiple comparisons correction. Standardization, to allow comparison across variables, was achieved by dividing the genotype estimate by the signal seen in the wildtype population. Shown in red are statistically significant estimates. RBC: red blood cells; BMC: bone mineral content; BMD: bone mineral density; WBC: white blood cells. (c,d) Raw data visualization for two traits in Usp47^{tm1b(EUCOMM)Wtsi} mice identified as having a significant SD genotype effect as the effect was specific to male mice. HDL: high-density lipoprotein–cholesterol; KO: knockout, WT: wildtype. While the Usp47^{tm1b(EUCOMM)Wtsi} line had a high proportion of SD traits, the standardized effect size (ES) change leading to a SD call observed for each trait was typically ±1 s.d. unit from the average ES. Globally for all SD calls, the ES was 0.28 (s.d.=0.38) while for Usp47^{tm1b(EUCOMM)Wtsi} the ES was 0.18 (s.d.=0.14).