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Fig. 9 | BMC Biology

Fig. 9

From: Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme

Fig. 9

There are many opportunities for spontaneous mutations to arise during the process of making a targeted knockout allele. A schematic showing the stages of making knockout mice. Spontaneous mutations can arise at any point in this process. The mutations described in this paper are shown at the bottom, with arrows indicating the latest possible time at which that mutation could have occurred. If a spontaneous mutation occurs in the cultured embryonic stem cells before targeting, it has the potential to affect multiple mouse lines, but although we detected variants in MCBX mice which were present in the parental ES cell line JM8F6 (eg g.1: 71642993A > C, Additional File 1: Fig S7, Additional File 2: Table S4b), none of the eight mutations affecting hearing were found in any of the parental ES cell lines (Table 1). A mutation arising later in the process may be specific to a single line (such as the rthm allele, which is likely to have arisen in the targeted ES cell) or a single mating within that line, which is likely to be the case for most of the mutations described here. The Klhl18lowf mutation, on the other hand, probably arose within the wildtype line used for expansion for all the colonies in which mice with the low frequency hearing loss phenotype were found

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