Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Kbtbd13em1Coeo
Name:	kelch repeat and BTB (POZ) domain containing 13; endonuclease-mediated mutation 1, Coen Ottenheijm
MGI ID:	MGI:6469320
Synonyms:	Kbtbd13R408C
Gene:	Kbtbd13  Location: Chr9:65295966-65298934 bp, - strand  Genetic Position: Chr9, 35.28 cM, cytoband D
Alliance:	Kbtbd13em1Coeo page

Strain of Origin:

C57BL/6J-Tyrc-2J

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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

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)