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. 2014 May 19;9(5):e97559. doi: 10.1371/journal.pone.0097559

Figure 1. Looper mice harbour a nonsense mutation in Chd7.

Figure 1

A) 136 F1N1 mice were click ABR-tested and classified as unaffected (threshold <35 dB SPL) and affected (threshold >45 dB SPL). Haplotypes for a region of chromosome 4 are illustrated, with the numbers below each haplotype representing the number of mice observed with that haplotype. The region between rs13477542 and rs13477559 was homozygous C57BL/6 in all unaffected mice and heterozygous in all affected mice. This indicated that the Looper causative mutation was located between 6,710,991 bp and 11,221,235 bp. B) DNA sequence electropherograms of a region of Chd7 exon 29 in (i) an affected Looper mouse and (ii) an unaffected littermate. The affected mouse was heterozygous for a c.5690C>A mutation, which was predicted to cause premature termination of translation at p.S1897. C) Average Chd7+/ Looper acoustic startle responses (n = 19) were significantly lower than Chd7+/+ controls (n = 20) at 95 to 115 dB SPL. D) Average Chd7+/ Looper ABR thresholds (n = 18) were significantly elevated at all frequencies in comparison to Chd7+/+ controls (n = 21). *p<0.0001 using two-way ANOVA and Fisher’s Least Significant Difference test. Error Bars = SEM.