Kbtbd13^em1Coeo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kbtbd13^em1Coeo
• Name: kelch repeat and BTB (POZ) domain containing 13; endonuclease-mediated mutation 1, Coen Ottenheijm
• MGI ID: MGI:6469320
• Synonyms: Kbtbd13^R408C
• Gene: Kbtbd13 Location: Chr9:65295966-65298934 bp, - strand Genetic Position: Chr9, 35.28 cM, cytoband D
• Alliance: Kbtbd13^em1Coeo page

Mutation origin

• Strain of Origin: C57BL/6J-Tyr^c-2J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Two sgRNAs and an ssODN template were used with CRISPR/Cas9 technology to create a C-to-T mutation (G-to-A on forward strand) that changes codon 408 from arginine to cysteine (p.R408C). This mutation is equivalent to the one found in nemaline myopathy (NEM6) patients. (J:295442)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Kbtbd13 Mutation: 11 strains or lines available

References

• Original: J:295442 de Winter JM, et al., KBTBD13 is an actin-binding protein that modulates muscle kinetics. J Clin Invest. 2020 Feb 3;130(2):754-767
• All: 1 reference(s)