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Fig. 2 | BMC Biology

Fig. 2

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

Fig. 2

Mutations in Klhl18 cause low frequency hearing loss. a Mean ABR thresholds from mice tested during establishment of the breeding colony derived from the MCBX colony. Mice were tested between 33 and 89 days old, and grouped into affected (n = 221, orange triangles) and unaffected (n = 213, teal circles) based on the bimodal distributions of thresholds for clicks and 6 kHz stimuli. Plots of individual ABR thresholds (grey) are shown separately with the mean trace indicated by coloured lines and symbols; error bars on mean trace are standard deviations. b Sequence traces from two unaffected mice (one wildtype, one heterozygote) and an affected mouse (homozygote) showing the variant Klhl18lowf (MCBX colony), p.V55F. c Clustal alignment from mouse, human, chicken, anole lizard, frog and zebrafish showing that the affected amino acid is highly conserved (red box). d Close-up of the BTB domain (pale cyan) showing the amino acid structures for the wildtype residue (blue, left) and the mutant residue (orange, right). e Mean ABR thresholds from mice heterozygous for the lowf allele (n = 13, blue circles) and compound heterozygotes carrying the lowf allele and the Klhl18tm1a allele (n = 17, purple triangles), demonstrating the low frequency hearing loss phenotype. Individual traces for the compound heterozygotes are shown in grey; error bars on mean trace are standard deviations. Data underlying plots in this figure are in Additional File 3

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