Pjvk^em1Chchw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pjvk^em1Chchw
• Name: pejvakin; endonuclease-mediated mutation 1, Chen-Chi Wu
• MGI ID: MGI:7427802
• Synonyms: Pjvk^G292R
• Gene: Pjvk Location: Chr2:76480617-76488898 bp, + strand Genetic Position: Chr2, 45.08 cM
• Alliance: Pjvk^em1Chchw 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 874 (c.874G>A) resulting in a glycine to arginine substitution at amino acid 292 (p.G292R) in exon 6. Three silent nucleotide mutations were also generated to prevent Cas9 editing. This variant is associated with poor performance in cochlear implant recipients with hearing loss. (J:332624)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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 Pjvk Mutation: 20 strains or lines available

References

• Original: J:332624 Cheng YF, et al., Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation. Biochem Biophys Res Commun. 2020 Nov 19;532(4):675-681
• All: 2 reference(s)