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] |