Fig. 7

Expression of wildtype col11a2 under the col2a1a promoter reduces the severity, but not penetrance, of fusion defects in col11a2del/del fish, while patient mutation-bearing transgenes fail to significantly reduce fusion severity. (A) The col2a1a promoter drives gene expression expression in the embryonic notochord and later in the juvenile IVDs, as demonstrated by a col2a1a::eGFP transgenic reporter imaged from 1 to 21 dpf. (B-D) Graphs reporting vertebral fusion penetrance and severity observed in col11a2del/del fish carrying col2a1a::col11a2WT (B), col2a1a::col11a2R133W (C), and col2a1a::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.