Kbtbd13^em1Coeo

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Species

Mus musculus

Symbol

Kbtbd13^em1Coeo

Category

allele

Allele of gene

Kbtbd13

Transgenic Constructs

None

Synonyms

• Kbtbd13^R408C

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations