Blk^em1Cgv
Endonuclease-mediated Allele Detail

Summary

• Symbol: Blk^em1Cgv
• Name: Blk proto-oncogene, Src family tyrosine kinase; endonuclease-mediated mutation 1, Carola Vinuesa
• MGI ID: MGI:7579427
• Synonyms: Blk^R125W
• Gene: Blk Location: Chr14:63610285-63654486 bp, - strand Genetic Position: Chr14, 33.25 cM
• Alliance: Blk^em1Cgv 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 an arginine to tryptophan substitution at amino acid 125 (p.R125W). This variant is orthologous to p.R131W found in a systemic lupus erythematosus patient. (J:343419)

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 Blk Mutation: 33 strains or lines available

References

• Original: J:343419 Jiang SH, et al., Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus. Nat Commun. 2019 May 17;10(1):2201
• All: 1 reference(s)