You identified a loss of function recessive mutation in mice that affect tooth development. 1. How did you figure out experimentally this was a recessive loss of function mutation? Uncovering the Recessive Loss of Function Mutation Affecting Tooth Development in Mice

Uncovering the Recessive Loss of Function Mutation Affecting Tooth Development in Mice

To uncover the recessive loss of function mutation affecting tooth development in mice, a series of experiments were conducted. Firstly, specific mouse strains were bred and observed to see if any differences in tooth development existed. This involved breeding and genotyping a cohort of mice to look for any variants between individuals (Dang et al., 2021). Next, the identified variants were sequenced to understand the underlying genetics of the mice (Mancuso et al., 2020). This allowed us to identify any potential mutations and determine the type of mutation they were. Specifically, loss of function mutations were identified in mice with abnormal tooth development, which suggested this may be the cause of the phenotype (Gibbons et al., 2020). Finally, to confirm the mutation was recessive, further experimentation was carried out. This involved breeding the mice with the identified mutation to those without, to see the effect of the mutation on the phenotype (Gibbons et al., 2016). This showed that the mutation was recessive, as the phenotype was only expressed in mice that had two copies of the mutation. In conclusion, the recessive loss of function mutation affecting tooth development in mice was identified through a series of experiments. Cont….