General appearance of Atp6v1b2 c.1516C > T knockin mice. (a) Targeted knockin of the Atp6v1b2 c.1516C > T mutation in mouse ES cells was shown and the ES cell screening element (Neo) was designed in intron 13. (b) WT and mutant mice were genotyped by PCR. Partial sequences of exon 14 showed the c.1516C > T mutation. (c) The difference of body size was visible between Atp6v1b2Arg506X/Arg506X, Atp6v1b2Arg506X/+, and WT littermates at 16 weeks. Atp6v1b2Arg506X/Arg506X mice were smaller than Atp6v1b2Arg506X/+ and WT mice (with B5 paper as the background). (d) Atp6v1b2Arg506X/Arg506X mice had significantly lower body weights than Atp6v1b2Arg506X/+ and WT mice, and the difference became more and more obvious with increasing age (P-value decreased) (*P < 0.05, **P < 0.01, one-way ANOVA).