Supplementary Figure 1: Basic behavior of male Gpm6a KO mice as well as visual function determined by electroretinography is normal. (A) Body weight; (B) Vision (visual cliff test); (C) Electroretinography; this was performed to exclude potential developmental alterations in the retina 1 of mutant mice affecting visual perception (N=6 per group); grand averages±SEM of electroretinograms evoked by 0.075cds/m 2 light flashes recorded from M6A mutant mice and wildtype littermates (n=6 each); over a range of 7 light intensities between
0.0003cds/m 2 and 10cds/m 2 , amplitudes and latencies of A- and B-waves (reflecting synchronous activity of photoreceptors and bipolar/retinal ganglion cells, respectively), as well as the amplitude and frequency of oscillatory potentials overlying the ascending B-wave
(reflecting electric activity of amacrine cells), were normal in M6A mutants. No significant differences were obtained for any of the intensities tested. (D) Open field pattern (except for time spent in the center); (E) Rotarod; (F) Olfaction (buried food finding); (G) Pain sensation
(hot plate); (H) Acoustic startle response (hearing); (I) Motivation (sucrose preference test); (J)
Sensorimotor gating, measured by prepulse inhibition (PPI), and startle response are all indistinguishable between KO and WT. N=13-28 per group except for (C).
Mean±SEM presented.
Supplementary Figure 2: Brief behavioral characterization of female Gpm6a KO mice also reveals a claustrophobia-like phenotype. (A) Comparable to male KO mice, female KO have an aversion towards closed arms in the classical EPM as well as (B) in EPM conducted in darkness. (C) Open field behavior pattern, vision and olfaction were unaltered in KO. N=7-18;
Mean±SEM presented.
Supplementary Table 1: Psychometric properties of the 'short German version' of the CLQ
Supplementary Table 2: Description of the pedigree sample with respect to sociodemographic and anxiety/claustrophobia relevant readouts
Supplementary Table 3: Comparison of sociodemographic and anxiety/claustrophobia relevant parameters in mutation carriers independent of claustrophobia diagnosis
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References
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Zhao J, Iida A, Ouchi Y, Satoh S, Watanabe S. M6a is expressed in the murine neural retina and regulates neurite extension. Mol Vis 2008; 14: 1623-1630.
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