Myo6^ksv
Spontaneous Allele Detail

Summary

• Symbol: Myo6^ksv
• Name: myosin VI; Kumamoto skaker/waltzer
• MGI ID: MGI:6153148
• Synonyms: ksv
• Gene: Myo6 Location: Chr9:80072313-80219011 bp, + strand Genetic Position: Chr9, 43.98 cM
• Alliance: Myo6^ksv page

Mutation origin

• Strain of Origin: B6;129S4-Gt(ROSA)26Sor^tm2Dym

Mutation description

• Allele Type: Spontaneous (Hypomorph, Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: 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. (J:245687)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Myo6 Mutation: 91 strains or lines available

References

• Original: J:245687 Seki Y, et al., A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells. PLoS One. 2017;12(8):e0183477
• All: 1 reference(s)