Myo6^em1Bcgen
Endonuclease-mediated Allele Detail

Summary

• Symbol: Myo6^em1Bcgen
• Name: myosin VI; endonuclease-mediated mutation 1, Biocytogen LLC
• MGI ID: MGI:6431142
• Synonyms: Myo6-C442Y
• Gene: Myo6 Location: Chr9:80072313-80219011 bp, + strand Genetic Position: Chr9, 43.98 cM
• Alliance: Myo6^em1Bcgen page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change at position 1325 resulting in a cysteine to tyrosine substitution at residue 442 in exon 13. The C442Y missense variant is seen in patients with autosomal dominant nonsyndromic hearing loss. (J:288210)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Myo6 Mutation: 90 strains or lines available

References

• Original: J:288210 Wang J, et al., A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern. Hear Res. 2019 Aug;379:79-88
• All: 1 reference(s)