Fig. 6

Expression of wildtype col11a2 under the aCNE7 promoter reduces the penetrance of fusion defects in col11a2del/+ fish, while patient mutation-bearing transgenes fail to significantly reduce fusion penetrance. (A) The aCNE7 enhancer element drives gene expression within the embryonic notochord, as demonstrated by an aCNE7::eGFP transgenic reporter. (B-D) Graphs reporting vertebral fusion penetrance (proportion of affected animals) and severity (number of fusions per affected animal) observed in col11a2del/+ fish carrying aCNE7::col11a2WT (B), aCNE7::col11a2R133W (C) and aCNE7::col11a2R1542L (D) transgenic lines. For penetrance graphs, error bars represent 95% confidence interval, and significance calculated using chi-squared analysis. For severity graphs, significance calculated using Student?s t-test. tg neg?transgene negative, tg pos?transgene positive, ns?not significant, *P < 0.05, **P < 0.01, ***P < 0.001, ****P < 0.0001.