Skip to main content
. 2012 Dec 12;7(12):e51284. doi: 10.1371/journal.pone.0051284

Table 1. Reported Myo7a mouse models.

Mouse Model Nucleotide change Protein change Exon Phenotype Affected domain Reference
ewaso c.1460T>A p.I487N 13 USB1B head domain This study
dumbo c.2839T>A p.F947I 23 DFNB2 linker region This study
headbanger c.531A>T p.I178F 6 USB1B head domain [41]
Myo7a4494SB c.592+2T>A Truncation In 6–7 USB1B head domain [40]
Myo7a6J c.722G>C p.R241P 7 USB1B head domain [39]
Myo7ash1 c.1505G>C p.R502P 13 USB1B head domain [39]
Myo7a816SB c.1934-2A>G Deletion of α-helix In 16–17 USB1B head domain [39]
Myo7a4626SB c.2158C>T p.Q720X 18 USB1B head domain [40]
Myo7a26SB c.5284T>A p.F1762I 39 USB1B MyTH4 2 domain [40]
polka c.5472+5G>A Truncation In 42–43 USB1B MyTH4 2 domain [19]
Myo7a3336SB c.6432T>A p.C2144X 48 USB1B FERM domain [40]