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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
