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EN
CRISPR/cas9 genome editing is used to create a S577R point mutation (AGC to AGA) in exon 14 as well as a nucleotide change encoding V580V silent mutation (GTG to GTC; resulting in loss of BspEI restriction site recognition). The mutation is associated with peripheral nerve disease, Charcot-Marie-Tooth disease type 2 (CMT2). (J:297767)
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
