Comp^em1Bgao
Endonuclease-mediated Allele Detail

Summary

• Symbol: Comp^em1Bgao
• Name: cartilage oligomeric matrix protein; endonuclease-mediated mutation 1, Bo Gao
• MGI ID: MGI:7411332
• Synonyms: COMP^VE
• Gene: Comp Location: Chr8:70826208-70834716 bp, + strand Genetic Position: Chr8, 34.15 cM
• Alliance: Comp^em1Bgao page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a misssense mutation T to A change at position 194 resulting in a valine to glutamate substitution at amino acid 65 (p.V65E). This corresponds to the human p.V66E missense mutation in the N-terminal homopentamer-forming domain identified in a family with carpal tunnel syndrome. (J:292033)

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 Comp Mutation: 41 strains or lines available

References

• Original: J:292033 Li C, et al., Mutations in COMP cause familial carpal tunnel syndrome. Nat Commun. 2020 Jul 20;11(1):3642
• All: 1 reference(s)