| Primary Identifier | MGI:6153148 | Allele Type | Spontaneous |
| Attribute String | Hypomorph, Modified isoform(s) | Gene | Myo6 |
| Inheritance Mode | Recessive | Strain of Origin | B6;129S4-Gt(ROSA)26Sor<tm2Dym> |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A spontaneous mutation, c.1381G>A, was identified, which is a missense mutation that changes glutamic acid residue at position 461 to a lysine residue (p.E461K). This mutation was identified at the last position of exon 12, one base before the splice-donor site. RT-PCR of cochlear and vestibular RNA indicates the production of abnormally alternatively spliced isoforms (at least 4 isoforms) and qRT-PCR indicates lower amounts of RNA. Western blot analysis confirmed decreased protein levels. |
